Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Okt4 Epitope Deficiency |
|
Abnormal T cell morphology |
OMIM:613949 |
Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
Myofibromatosis, Infantile, 1 |
|
Fibroma, Myofibromatosis |
OMIM:228550 |
Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... |
OMIM:151623 |
Tumor Predisposition Syndrome 1 |
|
Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci... |
OMIM:614327 |
Enchondromatosis, Multiple, Ollier Type |
|
Chondrosarcoma, Hemangioma, Multiple enchondromatosis |
OMIM:166000 |
Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
Reticulum Cell Sarcoma |
|
Neoplasm, Sarcoma |
OMIM:267730 |
Oslam Syndrome |
|
Neoplasm, Anemia, Osteosarcoma |
OMIM:165660 |
Tumor Predisposition Syndrome 4 |
|
Glioma, Meningioma, Breast carcinoma, Sarcoma |
OMIM:609265 |
Exostoses-Anetodermia-Brachydactyly Type E Syndrome |
|
Macule, Multiple exostoses, Aplasia/Hypoplasia of the skin, Dermal atrophy |
ORPHA:1962 |
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive |
|
Aplasia cutis congenita, Congenital absence of skin of limbs |
OMIM:600360 |
Multiple Fibroadenomas Of The Breast |
|
Fibroadenoma of the breast |
OMIM:615554 |
Chondrosarcoma |
|
Chondrosarcoma |
OMIM:215300 |
Chondrosarcoma, Extraskeletal Myxoid |
|
Chondrosarcoma |
OMIM:612237 |
Multiple Enchondromatosis, Maffucci Type |
|
Chondrosarcoma, Hemangioma, Multiple enchondromatosis |
OMIM:614569 |
Sarcoma, Synovial |
|
Synovial sarcoma |
OMIM:300813 |
Alveolar Soft Part Sarcoma |
|
Alveolar soft part sarcoma |
OMIM:606243 |
Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
Lung Cancer |
|
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma |
OMIM:211980 |
Li-Fraumeni Syndrome |
|
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... |
ORPHA:524 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Myelodysplasia, Abnormal erythrocyte mor... |
ORPHA:86841 |
Undifferentiated Pleomorphic Sarcoma |
|
Soft tissue sarcoma |
ORPHA:2023 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils, Osteosarcoma |
ORPHA:2760 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Lymphoproliferative disorder, Recurrent respiratory... |
OMIM:614470 |
Aplasia Cutis Congenita, Nonsyndromic |
|
Aplasia cutis congenita over the scalp vertex |
OMIM:107600 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... |
OMIM:606719 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology |
OMIM:300622 |
Premature Aging Syndrome, Okamoto Type |
|
Abnormal hair morphology, Neoplasm, Osteosarcoma |
OMIM:601811 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Desmoid Disease, Hereditary |
|
Desmoid tumors, Breast carcinoma |
OMIM:135290 |
Dermatofibrosarcoma Protuberans |
|
Fibrosarcoma, Neoplasm of the skin |
ORPHA:31112 |
Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Osteosarcoma |
OMIM:260500 |
Ollier Disease |
|
Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, Lymphangioma, Hemangi... |
ORPHA:296 |
Exostoses With Anetodermia And Brachydactyly, Type E |
|
Multiple exostoses, Dermal atrophy |
OMIM:133690 |
Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
Bazex Syndrome |
|
Yellow nails, Neoplasm, Nail dystrophy, Lung adenocarcinoma, Anemia, Liposarcoma |
ORPHA:166113 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, El... |
OMIM:615559 |
Paget Disease Of Bone 3 |
|
Osteosarcoma |
OMIM:167250 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Rhabdoid Tumor |
|
Renal neoplasm, Hypercalcemia, Lymphadenopathy, Neoplasm of the central nervous system, Anemia, N... |
ORPHA:69077 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Kaposi's sarcoma, Coombs-positive hemolytic anemia |
OMIM:615593 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Absence Of Fingerprints-Congenital Milia Syndrome |
|
Milia, Skin rash, Thin skin |
ORPHA:1658 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
Hyperkeratosis Lenticularis Perstans |
|
Aplasia/Hypoplasia of the skin, Pruritus, Skin ulcer, Squamous cell carcinoma, Basal cell carcino... |
ORPHA:409 |
Exostoses, Multiple, Type Ii |
|
Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses |
OMIM:133701 |
Exostoses, Multiple, Type I |
|
Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses |
OMIM:133700 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Increased circulating ferritin concentratio... |
OMIM:613101 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Myelodysplasia, Microcytic anemia, Hypersplenism, Splenome... |
ORPHA:846 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... |
OMIM:237800 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Sarcoma |
ORPHA:66661 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Aplastic anemia, Elevated circulating C-reactive protein concentration, Fulminant hepatitis, Hypo... |
OMIM:308240 |
Porokeratosis Of Mibelli |
|
Pruritus, Aplasia/Hypoplasia of the skin |
ORPHA:735 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased... |
OMIM:615285 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Medi... |
ORPHA:83469 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Respiratory tract inf... |
ORPHA:444463 |
Acquired Ichthyosis |
|
Neoplasm, Lymphoma, Multiple myeloma, Sarcoma |
ORPHA:454 |
Milroy Disease |
|
Angiosarcoma, Hydrocele testis, Neoplasm of the skin |
ORPHA:79452 |
Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... |
ORPHA:443167 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenom... |
OMIM:616860 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis,... |
OMIM:608898 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Hematological neop... |
ORPHA:824 |
Colorectal Cancer, Susceptibility To, 12 |
|
Carcinoma |
OMIM:615083 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Anemia, Hepatomegaly |
ORPHA:294 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis |
OMIM:612126 |
Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... |
ORPHA:163634 |
Oncogenic Osteomalacia |
|
Neoplasm of the skeletal system, Neoplasm of head and neck, Neurofibroma, Carcinoma, Giant cell t... |
ORPHA:352540 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Elevated circulating C-reactive protein concentration, Microcytic anemia, Recurrent pneumonia, He... |
OMIM:619750 |
Scalp Defects And Postaxial Polydactyly |
|
Aplasia cutis congenita of scalp |
OMIM:181250 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Elevated circulating C-reactive protein concentration, Squamous cell carcinoma, Prostate cancer, ... |
ORPHA:158057 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Premature graying of hair, Fibrosarcoma, Histiocytoma, Osteosarcoma |
OMIM:112250 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Refractory anemia with ringed siderob... |
OMIM:133180 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto... |
ORPHA:67044 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... |
ORPHA:232 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, S... |
OMIM:224120 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Osteogenic Sarcoma |
|
Retinoblastoma, Osteosarcoma |
OMIM:259500 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia |
OMIM:613977 |
Retinoblastoma |
|
Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma |
OMIM:180200 |
Paraneoplastic Pemphigus |
|
B-cell lymphoma, Thymoma, Sarcoma |
ORPHA:63455 |
Progressive Osseous Heteroplasia |
|
Abnormality of the parathyroid gland, Sarcoma |
ORPHA:2762 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice |
OMIM:179700 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Myelodysplasia, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thr... |
ORPHA:231401 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatocellular carcinoma, Increased circulating IgG level, Thyroid carcinoma, Lymphocytosis, Incr... |
ORPHA:3261 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Glutamate-Cysteine Ligase Deficiency |
|
Hepatosplenomegaly, Hemolytic anemia, Jaundice, Reticulocytosis |
ORPHA:33574 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... |
OMIM:300908 |
Werner Syndrome |
|
Elevated hemoglobin A1c, Elevated circulating aspartate aminotransferase concentration, Elevated ... |
OMIM:277700 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... |
OMIM:615234 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia, Myelodysplasia |
OMIM:162830 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Recurrent respiratory infections, Decreased proportion of marginal zone B cells, Au... |
OMIM:619375 |
Glutathione Peroxidase Deficiency |
|
Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia |
OMIM:614164 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Harderoporphyria |
|
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Increased circulating ferritin con... |
OMIM:618892 |
Fanconi Renotubular Syndrome 5 |
|
Emphysema, Lung adenocarcinoma, Pulmonary fibrosis |
OMIM:618913 |
Aicardi-Goutieres Syndrome 6 |
|
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly |
OMIM:615010 |
Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
Dermoodontodysplasia |
|
Thin skin |
OMIM:125640 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Elevated circulating C-reactive protein concentration, Diffuse alveolar hemorrhage,... |
OMIM:616050 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:205950 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Lymphoproliferati... |
OMIM:300853 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Alopecia, Dysgammaglobulinemia, Splenomegaly, Lymphoma, Lymphadenopathy, Hypocalcem... |
ORPHA:100025 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Large Congenital Melanocytic Nevus |
|
Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Generalized hirsutism, Sarcoma |
ORPHA:626 |
Liposarcoma |
|
Sarcoma |
ORPHA:69078 |
Spastic Paraplegia And Evans Syndrome |
|
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia |
OMIM:601608 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... |
OMIM:601859 |
Diamond-Blackfan Anemia 21 |
|
Erythroid hypoplasia, Synophrys, Widow's peak, Anemia, Coarse hair, Horizontal eyebrow, Thrombocy... |
OMIM:620072 |
Meige Disease |
|
Angiosarcoma, Pleural effusion |
ORPHA:90186 |
Chromosome 5Q Deletion Syndrome |
|
Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia |
OMIM:153550 |
Ataxia-Pancytopenia Syndrome |
|
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... |
ORPHA:2585 |
Congenital Erythropoietic Porphyria |
|
Facial hypertrichosis, Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Abnormal ci... |
ORPHA:79277 |
Asbestos Intoxication |
|
Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, ... |
ORPHA:2302 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Recurrent respi... |
OMIM:618278 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Atypical scarring of skin, Thin skin, Striae distensae |
OMIM:225310 |
Iron-Refractory Iron Deficiency Anemia |
|
Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso... |
OMIM:206200 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa... |
ORPHA:71275 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... |
ORPHA:75564 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... |
ORPHA:231226 |
Retinoblastoma |
|
Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Melanoma, Retinoblastoma, Leuk... |
ORPHA:790 |
Hemangioma-Thrombocytopenia Syndrome |
|
Hemangioma, Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly |
ORPHA:46532 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Pneumonia, Reduced natu... |
OMIM:300400 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... |
OMIM:612840 |
Tumor Predisposition Syndrome 2 |
|
Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D... |
OMIM:619975 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... |
ORPHA:822 |
Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:54057 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
Porphyria, Acute Hepatic |
|
Hemolytic anemia |
OMIM:612740 |
Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Jaundice, ... |
OMIM:232800 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia |
ORPHA:32 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Brain neoplasm, Elevated carcinoma antigen 125 level, Elevated circulat... |
ORPHA:370348 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Infantile Myofibromatosis |
|
Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Abnormal hair morphology... |
ORPHA:2591 |
Atrophoderma Vermiculata |
|
Hypoplastic pilosebaceous units, Pruritus, Periauricular skin pits, Neurofibroma, Atrophic scars,... |
ORPHA:79100 |
Common Variable Immunodeficiency |
|
Elevated hepatic transaminase, Hemolytic anemia, Recurrent respiratory infections, Pneumonia, Aut... |
ORPHA:1572 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Increased mean corp... |
ORPHA:98870 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Hypertriglyceridemia, Generalized lymphadenopathy, Decreased lymphocyte proliferati... |
OMIM:620282 |
Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia... |
ORPHA:231222 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Babesiosis |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Recurrent pharyngitis, Leukopenia, Hepati... |
ORPHA:108 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H... |
OMIM:235700 |
Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Thrombocytopenia, Splenomegaly, Giant platelets, El... |
OMIM:210250 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lym... |
OMIM:613011 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hypokal... |
OMIM:611590 |
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:230450 |
Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin |
OMIM:236000 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... |
OMIM:182900 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, El... |
OMIM:614034 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... |
OMIM:619220 |
Spherocytosis, Type 2 |
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Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... |
OMIM:616649 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
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Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased circulating ferritin concentrati... |
OMIM:194380 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
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Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Patent ductus arteriosus, I... |
OMIM:617021 |
Mantle Cell Lymphoma |
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Splenomegaly, B-cell lymphoma, Lymphadenopathy |
ORPHA:52416 |
Diamond-Blackfan Anemia |
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Acute myeloid leukemia, Myelodysplasia, Pure red cell aplasia, Erythroid hypoplasia, Neutropenia,... |
ORPHA:124 |
Osteopetrosis, Autosomal Recessive 4 |
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Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:611490 |
Spherocytosis, Type 4 |
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Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia |
OMIM:612653 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
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Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer |
ORPHA:743 |
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To |
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Hemolytic anemia |
OMIM:231900 |
Glutathione Synthetase Deficiency |
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Hemolytic anemia, Neutropenia |
OMIM:266130 |
Basal Cell Nevus Syndrome 2 |
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Angiofibromas, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Meningioma |
OMIM:620343 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
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Aplasia/Hypoplasia of the skin, Thin skin |
ORPHA:745 |
Adenosine Triphosphatase Deficiency, Anemia Due To |
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Nonspherocytic hemolytic anemia |
OMIM:102800 |
Hemolytic Anemia With Thermal Sensitivity Of Red Cells |
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Congenital hemolytic anemia |
OMIM:235370 |
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain |
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Compensated hemolytic anemia |
OMIM:142309 |
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane |
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Nonspherocytic hemolytic anemia |
OMIM:206300 |
Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
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Hemolytic anemia |
OMIM:612631 |
6-Phosphogluconolactonase Deficiency |
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Hemolytic anemia |
OMIM:172150 |
Rothmund-Thomson Syndrome Type 1 |
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Aplastic anemia, Alopecia totalis, Myelodysplasia, Cryptorchidism, Squamous cell carcinoma, Spars... |
ORPHA:221008 |
Nephrotic Syndrome, Type 7 |
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Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:615008 |
Methemoglobinemia, Beta Type |
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Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
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Methemoglobinemia |
OMIM:617973 |
Localized Dystrophic Epidermolysis Bullosa, Acral Form |
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Crusting erythematous dermatitis, Erythematous plaque, Thin skin, Dermal atrophy, Milia |
ORPHA:158673 |
Lecithin:Cholesterol Acyltransferase Deficiency |
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Hemolytic anemia, Normochromic anemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:245900 |
Ovarian Fibrothecoma |
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Diffuse leiomyomatosis, Ovarian fibroma, Pleural effusion, Fibrosarcoma, Abnormality of the ovary... |
ORPHA:314478 |
Junctional Epidermolysis Bullosa Inversa |
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Squamous cell carcinoma, Basal cell carcinoma, Nail dystrophy, Cutaneous melanoma, Anemia |
ORPHA:79405 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
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Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ... |
ORPHA:247806 |
Immunodeficiency With Hyper-Igm, Type 1 |
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Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... |
OMIM:308230 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
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Hyperbilirubinemia, Fava bean-induced hemolytic anemia |
OMIM:618660 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
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Hemolytic anemia, Hepatomegaly, Pneumonia, Splenomegaly, Lymphadenopathy, Neoplasm, Thrombocytopenia |
ORPHA:169090 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
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Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... |
OMIM:603909 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
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Pruritus, Subcutaneous nodule, Atrophic scars, Dermal atrophy, Skin plaque, Milia, Papule |
ORPHA:89843 |
Rothmund-Thomson Syndrome Type 2 |
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Aplastic anemia, Alopecia totalis, Myelodysplasia, Cryptorchidism, Lymphoma, Squamous cell carcin... |
ORPHA:221016 |
Congenital Amegakaryocytic Thrombocytopenia |
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Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Peutz-Jeghers Syndrome |
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Melanonychia, Neoplasm of the nose, Pancreatic adenocarcinoma, Esophageal neoplasm, Biliary tract... |
ORPHA:2869 |
Cowden Syndrome 7 |
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Breast carcinoma, Trichilemmoma, Papillary thyroid carcinoma, Papilloma, Hemangioma, Ductal carci... |
OMIM:616858 |
Wiskott-Aldrich Syndrome 2 |
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Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... |
OMIM:614493 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
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Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
Overhydrated Hereditary Stomatocytosis |
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Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
Fanconi Anemia, Complementation Group G |
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Myelodysplasia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:614082 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
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Hepatomegaly, Anisocytosis |
OMIM:604273 |
Atypical Hemolytic Uremic Syndrome |
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Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
Beta-Thalassemia Major |
|
Hypoparathyroidism, Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemogl... |
ORPHA:231214 |
Late-Onset Junctional Epidermolysis Bullosa |
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Squamous cell carcinoma, Basal cell carcinoma, Nail dystrophy, Cutaneous melanoma, Anemia |
ORPHA:79406 |
Hypereosinophilic Syndrome, Idiopathic |
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Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly |
OMIM:607685 |
Phosphoglycerate Kinase 1 Deficiency |
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Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis |
OMIM:300653 |
Acrogeria |
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Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer |
ORPHA:2500 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
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Elevated hepatic transaminase, Increased circulating ferritin concentration, Anisopoikilocytosis,... |
ORPHA:300298 |
Schnitzler Syndrome |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphoma, Lymphadenopathy, Increased circulating IgM le... |
ORPHA:37748 |
Immunodeficiency 14B, Autosomal Recessive |
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Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Monocytosi... |
OMIM:619281 |
Yellow Nail Syndrome |
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Renal neoplasm, Recurrent respiratory infections, Biliary tract neoplasm, Yellow nails, Bronchiec... |
ORPHA:662 |
Kasabach-Merritt Syndrome |
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Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema... |
ORPHA:2330 |
Desmoid Tumor |
|
Fibroma, Neoplasm of the skin, Desmoid tumors |
ORPHA:873 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
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Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent respiratory infections, Decreased propor... |
OMIM:606367 |
Familial Hemophagocytic Lymphohistiocytosis |
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Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Reduced natural killer cell ac... |
ORPHA:540 |
Gastrointestinal Stromal Tumor |
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Gastrointestinal stroma tumor, Esophageal neoplasm, Abnormality of the liver, Anemia, Sarcoma |
ORPHA:44890 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
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Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Elevated hepatic transaminase, Re... |
OMIM:603553 |
Self-Improving Dystrophic Epidermolysis Bullosa |
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Squamous cell carcinoma, Basal cell carcinoma, Nail dystrophy, Cutaneous melanoma, Anemia |
ORPHA:79411 |
X-Linked Ehlers-Danlos Syndrome |
|
Thin skin |
ORPHA:75497 |
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
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Eczema, Thin skin |
ORPHA:1810 |
Familial Melanoma |
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Neoplasm of the pancreas, Abnormal hair morphology, Abnormality of the lymphatic system, Melanoma... |
ORPHA:618 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
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Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Rec... |
OMIM:618935 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Recurrent respirator... |
OMIM:607616 |
Familial Adenomatous Polyposis 1 |
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Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor... |
OMIM:175100 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
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Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
Ulerythema Ophryogenesis |
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Acne, Erythematous papule, Dermal atrophy, Hyperkeratotic papule, Contact dermatitis |
ORPHA:3406 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Orotic Aciduria |
|
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... |
OMIM:258900 |
Galactosemia I |
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Hemolytic anemia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, El... |
OMIM:230400 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
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Decreased hemoglobin concentration, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis |
ORPHA:713 |
Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Cryptorchidism, ... |
OMIM:268400 |
Serrated Polyposis Syndrome |
|
Pancreatic adenocarcinoma, Biliary tract neoplasm, Schwannoma, Bladder carcinoma, Hodgkin lymphom... |
ORPHA:157798 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
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Aplasia cutis congenita on trunk or limbs, Pruritus, Atrophic scars, Nevus, Skin erosion, Milia |
ORPHA:89838 |
Gardner Syndrome |
|
Neoplasm of the pancreas, Brain neoplasm, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, M... |
ORPHA:79665 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis |
OMIM:247800 |
Monosomy 22 |
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Aplasia of the thymus, Schwannoma, Synophrys, Hypochromic microcytic anemia, Hepatosplenomegaly, ... |
ORPHA:96123 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Myelodysplasia, Absence of lymph node germinal center, Autoimmune th... |
OMIM:608184 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Thymoma |
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Aplastic anemia, Pure red cell aplasia, Neoplasm of head and neck, Abnormal lymphocyte proliferat... |
ORPHA:99867 |
Pgm3-Cdg |
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Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Increased circulating IgG level, Neutropen... |
ORPHA:443811 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
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Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... |
OMIM:616959 |
Mcleod Syndrome |
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Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... |
OMIM:300842 |
Baller-Gerold Syndrome |
|
Lymphoma, Osteosarcoma |
ORPHA:1225 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Myelodysplasia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence ... |
OMIM:105650 |
Bone Marrow Failure Syndrome 6 |
|
Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean corpuscular vo... |
OMIM:618849 |
Osteopetrosis, Autosomal Recessive 2 |
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Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia |
OMIM:259710 |
Adrenocortical Carcinoma |
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Adrenocortical carcinoma, Adrenocorticotropic hormone deficiency, Lung adenocarcinoma, Hypertrich... |
ORPHA:1501 |
Gray Platelet Syndrome |
|
Splenomegaly, Myelodysplasia, Thrombocytopenia |
ORPHA:721 |
Fetal Encasement Syndrome |
|
Thin skin |
OMIM:613630 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Hereditary Breast And/Or Ovarian Cancer Syndrome |
|
Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer |
ORPHA:145 |
Megaloblastic Anemia, Folate-Responsive |
|
Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto... |
OMIM:601775 |
Immunodeficiency 76 |
|
B-cell lymphoma, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, B lymphoc... |
OMIM:619164 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
Fibrous Dysplasia Of Bone |
|
Testicular neoplasm, Elevated circulating growth hormone concentration, Cutaneous myxoma, Ovarian... |
ORPHA:249 |
Neonatal Lupus Erythematosus |
|
Elevated hepatic transaminase, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Spl... |
ORPHA:398124 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent respiratory infections, Pneumonia, Increased circulating IgE level, Squamous cell carci... |
ORPHA:217390 |
Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
Cowden Syndrome 1 |
|
Goiter, Fibroadenoma of the breast, Breast carcinoma, Carcinoma, Hamartomatous polyposis, Ovarian... |
OMIM:158350 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia, B-cell lymphoma |
OMIM:619437 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Anemia, Increased mean corpuscular volume, ... |
OMIM:619041 |
Protoporphyria, Erythropoietic, 1 |
|
Hemolytic anemia, Hypertriglyceridemia, Cholelithiasis, Hepatic failure |
OMIM:177000 |
Immunodeficiency 23 |
|
Hemolytic anemia, Recurrent respiratory infections, Eosinophilia, Abscess, Increased circulating ... |
OMIM:615816 |
Pancreatic Cancer, Susceptibility To, 5 |
|
Melanoma, Pancreatic adenocarcinoma |
OMIM:618680 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Lymphoma, Recurrent... |
OMIM:240500 |
Cold Agglutinin Disease |
|
Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly |
ORPHA:56425 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increased circulating ferritin concen... |
OMIM:603552 |
Legius Syndrome |
|
Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne... |
ORPHA:137605 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
Immunodeficiency 20 |
|
Recurrent respiratory infections, Reduced natural killer cell activity, Recurrent sinusitis, Recu... |
OMIM:615707 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl... |
OMIM:618963 |
Juvenile Hyaline Fibromatosis |
|
Aplasia/Hypoplasia of the skin, Subcutaneous nodule, Gingival fibromatosis, Skin ulcer, Papule |
ORPHA:2028 |
Acute Erythroid Leukemia |
|
Pancytopenia, Erythroid hypoplasia, Leukopenia, Refractory anemia with ringed sideroblasts, Bone ... |
ORPHA:318 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Myelodysplasia, Lymphoma, Leukopenia, Monocytosis, Bon... |
OMIM:616871 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Jaundice, Schistocytosis, Elevated circulating creatinine concentration, Increas... |
OMIM:274150 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Hypouricemia, Increased circulating guanosine concentration, Pure re... |
OMIM:613179 |
Nijmegen Breakage Syndrome |
|
Abnormal hair quantity, Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent sinopulmonary in... |
ORPHA:647 |
Trimethylaminuria |
|
Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia |
OMIM:602079 |
Dermoodontodysplasia |
|
Thin skin, Melanocytic nevus |
ORPHA:1660 |
Aicardi Syndrome |
|
Recurrent pneumonia, Teratoma, Carcinoma, Lipoma, Hepatoblastoma, Metastatic angiosarcoma, Hemang... |
OMIM:304050 |
Immunodeficiency 102 |
|
Leukopenia, Decreased circulating IgG level, Hepatomegaly, Partial absence of specific antibody r... |
OMIM:301082 |
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, B-cell lymphoma, Splenomegaly, Recurrent upper respiratory tract... |
OMIM:616005 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Spinal hemangiob... |
OMIM:193300 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis |
OMIM:300367 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Neoplasm, Hypocalcemia |
ORPHA:172 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, B-cell lymphoma, Splenomegaly, Lymphoma, Breast carcinoma, Lymphadenopathy |
ORPHA:86893 |
Immunodeficiency 27A |
|
Pneumonia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Enlarged mesenteric l... |
OMIM:209950 |
Familial Cervical Artery Dissection |
|
Thin skin, Striae distensae |
ORPHA:36382 |
Pyropoikilocytosis, Hereditary |
|
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau... |
OMIM:603903 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic... |
OMIM:259720 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia |
OMIM:610539 |
Attenuated Familial Adenomatous Polyposis |
|
Astrocytoma, Uterine leiomyoma, Papilloma, Thyroid adenoma, Adenocarcinoma of the colon, Fibroma |
ORPHA:220460 |
Periventricular Nodular Heterotopia |
|
Patent ductus arteriosus, Thin skin |
ORPHA:98892 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Anemia, Abnormalit... |
ORPHA:848 |
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Thin skin |
OMIM:259410 |
Opsoclonus-Myoclonus Syndrome |
|
Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne... |
ORPHA:1183 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... |
ORPHA:79303 |
Terminal Osseous Dysplasia |
|
Fibroma |
OMIM:300244 |
Glucagonoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen... |
ORPHA:97280 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:206100 |
Cheilitis Glandularis |
|
Abnormal salivary gland morphology, Neoplasm, Squamous cell carcinoma |
ORPHA:1221 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... |
OMIM:235400 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Pancreatic adenocarcinoma, Hyperparathyroidism, Hypercalcemia, Hurthle cell thyroid adenoma, Papi... |
OMIM:145001 |
Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Atrophic scars, Thin skin |
OMIM:225320 |
Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Osteochondroma, B-cell lymphoma, Burkitt lymphoma |
OMIM:620232 |
Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Lymphoproliferative disorder, Splenomegaly, Lymphoma... |
OMIM:615122 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis |
ORPHA:66518 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... |
OMIM:618398 |
Epidermodysplasia Verruciformis, Susceptibility To, 2 |
|
Verruca plana, Squamous cell carcinoma of the skin |
OMIM:618231 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly... |
OMIM:611881 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Elevated hepatic transaminase, Alopecia, Microcytic anemia, Low posteri... |
ORPHA:2959 |
Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:616435 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Cryptorchidism, Prolonged G2 phase of cell cycle, Reticulocytopenia, Anemia, Neutro... |
OMIM:600901 |
Dermatomyositis |
|
Abnormal hair quantity, Recurrent respiratory infections, Abnormal eosinophil morphology, Gastroi... |
ORPHA:221 |
Elliptocytosis 2 |
|
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis |
OMIM:130600 |
Essential Thrombocythemia |
|
Splenomegaly, Myelodysplasia, Abnormal platelet morphology, Acute leukemia |
ORPHA:3318 |
Familial Pseudohyperkalemia |
|
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... |
ORPHA:90044 |
Necrobiosis Lipoidica |
|
Granuloma, Abnormality of neutrophil physiology, Squamous cell carcinoma |
ORPHA:542592 |
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration |
|
Decreased LDL cholesterol concentration, Acanthocytosis |
OMIM:607236 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Increased circulating ferritin concent... |
OMIM:613313 |
Acromesomelic Dysplasia, Grebe Type |
|
Sarcoma |
ORPHA:2098 |
Tempi Syndrome |
|
Transudative pleural effusion, Increased circulating IgG level, Increased hematocrit, Abnormality... |
ORPHA:284227 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Pancytopenia, Aplastic anemia, Myelodysplasia, Mediastinal lymphadenopathy, Usual interstitial pn... |
OMIM:614742 |
Pleuropulmonary Blastoma |
|
Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma |
OMIM:601200 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Bile duct polyp, Biliary tract abnormality, Breast carcinoma, Hamartoma... |
OMIM:175200 |
Silver-Russell Syndrome 2 |
|
Thin skin |
OMIM:618905 |
Wiskott-Aldrich Syndrome |
|
Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Absent microvilli on the sur... |
OMIM:301000 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Cryptorchidism, Prolonged G2 phase of cell cycle, Reticulocytopenia, Anemia, Neutro... |
OMIM:227650 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Pneumonia, Splenomegaly, Lymphoma, Recurrent tonsillitis, Bronchiectasis, Lymphaden... |
ORPHA:397596 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Skin dimple, Thin skin |
ORPHA:261304 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod... |
ORPHA:100024 |
Vipoma |
|
Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Neoplasm of the liver, Hypokal... |
ORPHA:97282 |
Immunodeficiency 87 And Autoimmunity |
|
Elevated circulating C-reactive protein concentration, Abnormal lymphocyte proliferation, Hepatic... |
OMIM:619573 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Autoimmune thrombocy... |
ORPHA:100026 |
Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis |
OMIM:611804 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Alopecia, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Lymphadenopathy, Neopl... |
ORPHA:2584 |
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails |
|
Congenital localized absence of skin |
OMIM:132000 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Myelodysplasia, Anemia, Leukopenia, Bone marrow hypocellularity, Thromboc... |
OMIM:619151 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocyt... |
ORPHA:3226 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Thrombocytopenia, Pleuritis, Leukopenia |
OMIM:152700 |
Werner Syndrome |
|
Abnormal hair whorl, Squamous cell carcinoma, Premature graying of hair, Neoplasm, Thyroid carcin... |
ORPHA:902 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Brittle hair, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, ... |
OMIM:616084 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkalem... |
OMIM:608885 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami... |
OMIM:615558 |
Tuberous Sclerosis 2 |
|
Chordoma, Astrocytoma, Angiofibromas, Retinal hamartoma, Ependymoma, Gingival fibromatosis, Subep... |
OMIM:613254 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgE level, Hepatitis, ... |
OMIM:304790 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio... |
OMIM:153670 |
Choreoacanthocytosis |
|
Elevated circulating creatine kinase concentration, Acanthocytosis |
OMIM:200150 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Cryptorchidism, Prolonged G2 phase of cell cycle, Reticulocytopenia, Anemia, Bone m... |
OMIM:227645 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... |
OMIM:619802 |
Hemolytic Anemia, Congenital, X-Linked |
|
Hemolytic anemia, Jaundice |
OMIM:301015 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Recurrent respiratory infections, Abnormal eosinophil morphology, Recurrent int... |
ORPHA:906 |
Pseudoprogeria Syndrome |
|
Thin skin |
ORPHA:2985 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia, Squamous cell carcinoma of the skin, Verrucae |
OMIM:618309 |
Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Hepatomegaly, Recurrent respiratory infections, Alopecia, Abnormal eyeb... |
ORPHA:1775 |
Cutaneous Neuroendocrine Carcinoma |
|
Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Basal cell carcinoma, Squamous cell... |
ORPHA:79140 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi... |
OMIM:615513 |
Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
Autosomal Dominant Deafness-Onychodystrophy Syndrome |
|
Aplasia cutis congenita |
ORPHA:79499 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Hemolytic anemia, Elevated creatine kinase after exercise, Hyperkalemia |
ORPHA:57 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Pneumonia, Pure red cell aplasia, Autoimmune thrombocy... |
ORPHA:436159 |
Somatostatinoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen... |
ORPHA:97283 |
Immunodeficiency 32B |
|
Hepatomegaly, Recurrent respiratory infections, Neutrophilia, Eosinophilia, Pneumonia, Splenomega... |
OMIM:226990 |
Immunodeficiency 21 |
|
Aplastic anemia, Myelodysplasia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropen... |
OMIM:614172 |
Cronkhite-Canada Syndrome |
|
Hepatomegaly, Alopecia, Splenomegaly, Hamartomatous polyposis, Aplasia/Hypoplasia of the eyebrow,... |
ORPHA:2930 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Squamous cell carcinoma, Basal cell carcinoma, Nail dystrophy, Cutaneous melanoma, Anemia |
ORPHA:79409 |
Ghosal Hematodiaphyseal Dysplasia |
|
Splenomegaly, Anemia |
ORPHA:1802 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Thin skin |
ORPHA:157965 |
Pancreatic Cancer |
|
Neoplasm of the pancreas |
OMIM:260350 |
Immunodeficiency 104 |
|
Hepatomegaly, Pneumonia, Splenomegaly, Lymphadenopathy, T lymphocytopenia |
OMIM:608971 |
Rhabdomyosarcoma, Embryonal, 2 |
|
Ovarian thecoma, Pleuropulmonary blastoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Nephr... |
OMIM:180295 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Absent platelet dense granules, Fair hair, Decreased CD4:CD8 ratio, Albinism, Splen... |
OMIM:608233 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Squamous cell carcinoma, Basal cell carcinoma, Nail dystrophy, Cutaneous melanoma, Anemia |
ORPHA:79410 |
Familial Adenomatous Polyposis |
|
Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Papillary thyroid carcinoma, Ad... |
ORPHA:733 |
Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Elevated hepatic transam... |
OMIM:260400 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy |
OMIM:183350 |
Familial Pancreatic Carcinoma |
|
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Jaundice, Breast carcinoma, Hepatosplen... |
ORPHA:1333 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Hemolytic anemia, Decreased HDL cholester... |
ORPHA:650 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Hematological neoplasm, Splenomegaly, Lymphadenopathy, Increased proportion of CD25... |
ORPHA:98848 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Abnormal circulating protein concentration, Single lineage myelodysplasia... |
ORPHA:86839 |
Atypical Werner Syndrome |
|
Abnormal hair whorl, Premature graying of hair, Neoplasm of the breast, Abnormality of the pulmon... |
ORPHA:79474 |
Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Hemangioma, Increased hematocrit, Increased hemoglobin |
OMIM:263400 |
Superficial Epidermolytic Ichthyosis |
|
Thin skin |
ORPHA:455 |
Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis, Splenomegaly, Anemia, Elevated hepatic transaminase |
ORPHA:75563 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eosinophilia, Recurrent pneumonia, Increased circulating IgE ... |
OMIM:243700 |
Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Portal hyperte... |
OMIM:619487 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Normochromic anem... |
OMIM:615512 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno... |
ORPHA:507 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Myelodysplas... |
ORPHA:98849 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Peritonitis, Elevated circulating cr... |
ORPHA:90038 |
Abetalipoproteinemia |
|
Elevated hepatic transaminase, Reticulocytosis, Hepatomegaly, Decreased HDL cholesterol concentra... |
ORPHA:14 |
Abetalipoproteinemia |
|
Abetalipoproteinemia, Acanthocytosis |
OMIM:200100 |
Mixed Connective Tissue Disease |
|
Hemolytic anemia, Hepatomegaly, Alopecia, Splenomegaly, Mediastinal lymphadenopathy, Abnormal pul... |
ORPHA:809 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Oropharyngeal squamous cell carcinoma, Alopecia, Sparse eye... |
OMIM:305000 |
Rh-Null, Regulator Type |
|
Hemolytic anemia, Jaundice, Stomatocytosis, Unconjugated hyperbilirubinemia |
OMIM:268150 |
Congenital Heart Defects And Ectodermal Dysplasia |
|
Thin skin |
OMIM:617364 |
Sézary Syndrome |
|
Hepatomegaly, Alopecia, Cutaneous T-cell lymphoma, Abnormal pleura morphology, Abnormal immunoglo... |
ORPHA:3162 |
Familial Colorectal Cancer Type X |
|
Benign neoplasm of the central nervous system, Renal neoplasm, Pancreatic adenocarcinoma, Gliobla... |
ORPHA:440437 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, Ne... |
ORPHA:699 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Caspase 8 Deficiency |
|
Decreased circulating IgG level, Recurrent sinopulmonary infections, Complete or near-complete ab... |
OMIM:607271 |
Squamous Cell Carcinoma, Head And Neck |
|
Squamous cell carcinoma |
OMIM:275355 |
Lichen Planopilaris |
|
Pruritus, Hypopigmented skin patches, Skin ulcer, Dermal atrophy, Neoplasm of the oral cavity, Pa... |
ORPHA:525 |
Lymphedema-Distichiasis Syndrome |
|
Patent ductus arteriosus, Fibrosarcoma, Distichiasis, Abnormality of the pulmonary vasculature |
ORPHA:33001 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Portal hypertension, Myelodysplasia, Thrombocytopenia, Cryptorchidism, Premature graying of hair,... |
OMIM:620365 |
Arthrochalasia Ehlers-Danlos Syndrome |
|
Thin skin |
ORPHA:1899 |
8P11.2 Deletion Syndrome |
|
Hemolytic anemia, Splenomegaly, Patent ductus arteriosus, Spherocytosis, Cryptorchidism |
ORPHA:251066 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Cigarette-paper scars, Thin skin, Webbed neck |
OMIM:612350 |
Mismatch Repair Cancer Syndrome 1 |
|
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... |
OMIM:276300 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Felty Syndrome |
|
Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Recurrent pharyngitis, Lymphoma, Re... |
ORPHA:47612 |
Omenn Syndrome |
|
Hepatomegaly, Alopecia, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Lymphoma, Lymphadeno... |
ORPHA:39041 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Acanthocytosis, Hypocholesterolemia, Increas... |
ORPHA:71 |
3-Methylglutaconic Aciduria, Type Viia |
|
Anisopoikilocytosis, Anemia, Neutropenia |
OMIM:619835 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Proteus Syndrome |
|
Splenomegaly, Multiple lipomas, Lipoma, Lymphangioma, Hemangioma |
OMIM:176920 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... |
ORPHA:79501 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmune hemolytic anemia, Lymphoproliferative disorder, Splenomegaly, Jaundice, Chronic lympha... |
ORPHA:90033 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Lymphadenopa... |
ORPHA:545 |
Neurofibromatosis, Type I |
|
Astrocytoma, Rhabdomyosarcoma, Neurofibroma, Optic nerve glioma, Pheochromocytoma, Meningioma, Pl... |
OMIM:162200 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Desquamative interstitial pneumonitis, ... |
OMIM:615952 |
Immunodeficiency 48 |
|
Recurrent respiratory infections, Hepatomegaly, Pneumonia, Absence of CD8-positive T cells, Splen... |
OMIM:269840 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Pancreatic endocrine t... |
ORPHA:892 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Recurrent respiratory infectio... |
OMIM:300635 |
Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly |
OMIM:259730 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Cryptorchidism, Patent ductus arteriosus, Annular pancreas, Reticulocytopenia, Prol... |
OMIM:227646 |
Prolidase Deficiency |
|
Aplasia/Hypoplasia of the skin, Pruritus, Crusting erythematous dermatitis, Skin ulcer, Thin skin... |
ORPHA:742 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Atypical scarring of skin, Atrophic scars, Thin skin |
ORPHA:75496 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Lymphoproliferative disorder, Eosinophilia, Pneumonia, Autoimmune th... |
ORPHA:911 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Pneumonia, Atypical or prolonged he... |
ORPHA:83471 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Dohle Bodies And Leukemia |
|
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia |
OMIM:223350 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly |
ORPHA:163596 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... |
OMIM:617388 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Cutaneous leiomyosarcoma, Multiple cutaneous leiomyomas, Uterine leiomyoma, Uterine leiomyosarcom... |
OMIM:150800 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnorma... |
ORPHA:96180 |
Pancreatic Cancer, Susceptibility To, 1 |
|
Pancreatic adenocarcinoma |
OMIM:606856 |
Focal Facial Dermal Dysplasia Type I |
|
Skin dimple, Atrophic scars, Spotty hypopigmentation, Aplasia cutis congenita |
ORPHA:79133 |
Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Hypoalbuminemia, Hepati... |
OMIM:277900 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Neoplasm, Thin skin, Striae distensae |
OMIM:219080 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Breast carcinoma, Squamou... |
ORPHA:454840 |
Sea-Blue Histiocyte Disease |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... |
OMIM:269600 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Spontaneous hemolytic crises, Conjugated hyperbilirubinemia, Jaundice, Hepatosplenomegaly, Stomat... |
ORPHA:168577 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Lymphocytic intersti... |
OMIM:618495 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly |
OMIM:606445 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,... |
ORPHA:86843 |
Pemphigus Erythematosus |
|
Focal dermal aplasia/hypoplasia, Localized skin lesion, Hypopigmented skin patches, Erythematous ... |
ORPHA:79480 |
Immunodeficiency 54 |
|
Hepatomegaly, Recurrent respiratory infections, Lymphoproliferative disorder, Splenomegaly, Adren... |
OMIM:609981 |
Cancer-Associated Retinopathy |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,... |
ORPHA:71505 |
Pancreatic Cancer, Susceptibility To, 2 |
|
Neoplasm of the pancreas |
OMIM:613347 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili... |
ORPHA:529808 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Scarring alopecia of scalp, Atrophic scars, Milia, Aplasia cutis congenita |
ORPHA:79402 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili... |
ORPHA:529799 |
Benign Schwannoma |
|
Schwannoma, Peripheral schwannoma, Scleral schwannoma, Vestibular schwannoma, Abnormality of the ... |
ORPHA:252164 |
Gcgr-Related Hyperglucagonemia |
|
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology, Glucagonoma |
ORPHA:438274 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... |
OMIM:616278 |
Parietal Foramina 3 |
|
Aplasia cutis congenita of scalp |
OMIM:609566 |
Aplasia Cutis Congenita |
|
Aplasia cutis congenita over the scalp vertex, Skin ulcer, Congenital localized absence of skin |
ORPHA:1114 |
Developmental And Epileptic Encephalopathy 50 |
|
Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hyperammonemia, Anemia |
OMIM:616457 |
Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Abnormal pulmonary interstitial morpholo... |
OMIM:230800 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hypertriglyceridemia, Hepatomegaly |
OMIM:619175 |
Fanconi Anemia, Complementation Group P |
|
Cryptorchidism, Pancytopenia, Anemia, Squamous cell carcinoma |
OMIM:613951 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Aplasia/Hypoplasia of the lungs, Splenomegaly, Ascites, Anemia |
ORPHA:1046 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Carcinoma, Nail dystrophy, Squamous cell carcinoma |
OMIM:615225 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Thin skin |
ORPHA:230839 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Splenomegaly, Hyperammonemia, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia |
ORPHA:79312 |
Lathosterolosis |
|
Elevated hepatic transaminase, Bilobate gallbladder, Increased mean platelet volume, Acanthocytos... |
OMIM:607330 |
Carney Triad |
|
Gastrointestinal stroma tumor, Mediastinal lymphadenopathy, Leiomyosarcoma, Lymphadenopathy, Adre... |
ORPHA:139411 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Pneumonia, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Neutropenia... |
OMIM:607594 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Hypouricemia, Autoimmune thrombocy... |
ORPHA:760 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Decreased circulating IgG level, Peritoneal effusion, Disseminated cutaneous war... |
ORPHA:90362 |
Lynch Syndrome |
|
Benign neoplasm of the central nervous system, Glioblastoma multiforme, Pancreatic adenocarcinoma... |
ORPHA:144 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm, Bone marrow hypocellularity |
ORPHA:391 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Generalized lymphadenopathy, Decreased circulating IgG level, Autoimmune thrombocytopenia, Bronch... |
OMIM:614700 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Chromosome 17Q11.2 Deletion Syndrome, 1.4-Mb |
|
Neurofibroma, Plexiform neurofibroma, Lisch nodules, Neurofibrosarcoma, Subcutaneous neurofibroma... |
OMIM:613675 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Aplasia/Hypoplasia of the skin, Xanthomatosis, Thin skin |
ORPHA:2348 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Thrombocytopenia, Cr... |
OMIM:617052 |
Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Hemolytic anemia |
OMIM:615399 |
Immunodeficiency 10 |
|
Kaposi's sarcoma, Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy |
OMIM:612783 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia |
OMIM:118830 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612926 |
Multiple Endocrine Neoplasia, Type Iv |
|
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... |
OMIM:610755 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619868 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:620010 |
Progressive Hemifacial Atrophy |
|
Aplasia/Hypoplasia of the skin |
ORPHA:1214 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... |
ORPHA:158061 |
Myasthenia Gravis |
|
Hemolytic anemia, Abnormal thymus morphology, Hepatitis, Pure red cell aplasia |
ORPHA:589 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Alopecia, Nail dystrophy, Anemia, Squamous cell carcinoma |
OMIM:226600 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Lymphoproliferative disorder, Recurrent upper respiratory tract infe... |
OMIM:614868 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Hemolytic anemia |
OMIM:612300 |
Epidermodysplasia Verruciformis, Susceptibility To, 3 |
|
Basal cell carcinoma, Verrucae, Squamous cell carcinoma |
OMIM:618267 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Acanthocytosis |
OMIM:604777 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Dermal atrophy |
OMIM:617294 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612925 |
Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Generalized lymphadenopathy, Pneumonia, Splenomegal... |
OMIM:615846 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Hy... |
ORPHA:64743 |
Mutyh-Related Attenuated Familial Adenomatous Polyposis |
|
Desmoid tumors, Adenocarcinoma of the colon |
ORPHA:247798 |
Marburg Hemorrhagic Fever |
|
Elevated hepatic transaminase, Lymphopenia, Reticulocytosis, Elevated circulating creatine kinase... |
ORPHA:99826 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Subcutaneous nodule, Aplasia/Hypoplasia of the skin, Atypical scarring of skin |
ORPHA:1366 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Alopecia, Aplastic anemia, Myelodysplasia, Thrombocytopenia, Hepatic necrosis, Premature graying ... |
OMIM:127550 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... |
OMIM:616452 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim... |
ORPHA:331206 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612924 |
Carney Complex |
|
Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm of the breast,... |
ORPHA:1359 |
Familial Multinodular Goiter |
|
Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular goiter, Ovarian ... |
ORPHA:276399 |
Pediatric Systemic Lupus Erythematosus |
|
Alopecia, Lymphadenopathy, Leukopenia, Ascites, Microangiopathic hemolytic anemia, Pleural effusi... |
ORPHA:93552 |
Familial Adenomatous Polyposis 3 |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Breast carcinoma, Bladder neoplasm, Basal cell ... |
OMIM:616415 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... |
OMIM:616828 |
Lambert-Eaton Myasthenic Syndrome |
|
Small cell lung carcinoma |
ORPHA:43393 |
Porphyria, Congenital Erythropoietic |
|
Hemolytic anemia, Hepatomegaly, Alopecia, Absent eyebrow, Splenomegaly, Jaundice, Loss of eyelash... |
OMIM:263700 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin... |
OMIM:102700 |
Neurofibromatosis Type 1 |
|
Abnormal hair quantity, Astrocytoma, Cryptorchidism, Chronic myelogenous leukemia, Multiple lipom... |
ORPHA:636 |
Red Cell Permeability Defect |
|
Elliptocytosis |
OMIM:179650 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Jaundice, Anemia, Abnormality of the pulmon... |
ORPHA:290 |
Short Stature With Microcephaly And Distinctive Facies |
|
Sparse eyebrow, Sparse scalp hair, Anisopoikilocytosis, Anemia |
OMIM:615789 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Hyperlipidemia, Biliary tract abnormal... |
ORPHA:1414 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Myelodysplasia, Thrombocytopenia, Recurrent upper respiratory tract infections, Reticulocytopenia... |
ORPHA:508542 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly |
OMIM:615085 |
Pparg-Related Familial Partial Lipodystrophy |
|
Aplasia/Hypoplasia of the skin, Xanthomatosis, Thin skin |
ORPHA:79083 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... |
ORPHA:447 |
Rhabdomyosarcoma, Embryonal, 1 |
|
Embryonal rhabdomyosarcoma |
OMIM:268210 |
Dyskeratosis Congenita, Digenic |
|
Alopecia, Sparse eyelashes, Decreased circulating total IgM, Melanoma, Basal cell carcinoma, Squa... |
OMIM:620040 |
Adams-Oliver Syndrome 4 |
|
Aplasia cutis congenita, Patent ductus arteriosus |
OMIM:615297 |
Osteopetrosis, Autosomal Dominant 3 |
|
Splenomegaly, Hyperparathyroidism, Anemia, Hepatomegaly |
OMIM:618107 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:608799 |
Tuberous Sclerosis 1 |
|
Chordoma, Astrocytoma, Ependymoma, Gingival fibromatosis, Cardiac rhabdomyoma, Renal cell carcino... |
OMIM:191100 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni... |
OMIM:278000 |
Cowden Syndrome |
|
Endometrial carcinoma, Follicular thyroid carcinoma, Enlarged polycystic ovaries, Cavernous heman... |
ORPHA:201 |
Rhabdomyosarcoma 2 |
|
Alveolar rhabdomyosarcoma |
OMIM:268220 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Myelodysplasia, Splenomegaly, Chronic myelogenous leukemia, Thrombocytosis |
ORPHA:71493 |
Fgfr2-Related Bent Bone Dysplasia |
|
Extramedullary hematopoiesis, Hirsutism, Hepatosplenomegaly |
ORPHA:313855 |
Immunodeficiency, Common Variable, 7 |
|
Recurrent respiratory infections, Splenomegaly, Chronic (near) absent circulating IgG4, Reduced i... |
OMIM:614699 |
Arthrogryposis Multiplex Congenita 5 |
|
Normocytic anemia, Poikilocytosis, Acanthocytosis |
OMIM:618947 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Recurrent respiratory infections, Diffuse leiomyomatosis, Vulvar neoplasm, Tracheobronchial leiom... |
ORPHA:1018 |
Good Syndrome |
|
Abnormal leukocyte morphology, Recurrent respiratory infections, Mediastinal lymphadenopathy, Bro... |
ORPHA:169105 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Le... |
OMIM:620210 |
Disseminated Superficial Actinic Porokeratosis |
|
Squamous cell carcinoma |
ORPHA:79152 |
Bloom Syndrome |
|
Elevated hemoglobin A1c, Cryptorchidism, Lymphoma, Recurrent upper respiratory tract infections, ... |
OMIM:210900 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Macrocytic anemia, Unilateral cryptorchidism, Sparse eyelashes, Persistence of hemoglobin F, Incr... |
OMIM:300946 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Lymphoma, Lymphadenopa... |
ORPHA:33226 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Laryngeal carcinoma, Carcinoma, Nail dystrophy, Hypercholesterolemia, Decre... |
OMIM:610644 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Enlarged tonsils,... |
ORPHA:2785 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocyt... |
OMIM:616100 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Alpha-1-Antitrypsin Deficiency |
|
Elevated hepatic transaminase, Hepatocellular carcinoma, Splenomegaly, Panacinar emphysema, Bronc... |
OMIM:613490 |
Lathosterolosis |
|
Hepatomegaly, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal platelet morphology, Hepati... |
ORPHA:46059 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Thin skin, Striae distensae |
OMIM:610475 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa... |
OMIM:267700 |
Paroxysmal Cold Hemoglobinuria |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Coombs-positive hemolytic anemia |
ORPHA:90035 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Thin skin |
OMIM:219150 |
Schöpf-Schulz-Passarge Syndrome |
|
Alopecia, Ovarian neoplasm, Squamous cell carcinoma, Basal cell carcinoma, Sparse hair, Aplasia/H... |
ORPHA:50944 |
Aicardi-Goutieres Syndrome 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thro... |
OMIM:610333 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... |
OMIM:614480 |
Griscelli Syndrome |
|
Hepatomegaly, Abnormal eyebrow morphology, Abnormality of neutrophils, Abnormal eyelash morpholog... |
ORPHA:381 |
Shigellosis |
|
Hyponatremia, Pneumonia, Abscess, Leukocytosis, Peritonitis, Abnormal blood ion concentration, Ch... |
ORPHA:810 |
Hellp Syndrome |
|
Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat... |
ORPHA:244242 |
Omenn Syndrome |
|
Hepatomegaly, Alopecia, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thromboc... |
OMIM:603554 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Hyperalaninemia |
OMIM:619046 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Lymphoma, Increased total bilirubin |
ORPHA:90036 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary prolactin cel... |
ORPHA:276152 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Abnormal hair morphology, Patent ductus arteriosus, Elliptocytosis |
ORPHA:86818 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Splenomegaly, Abnormal lung morphology, Abnormality of the lymphatic system, He... |
ORPHA:464329 |
Grfoma |
|
Neoplasm of the thymus, Pheochromocytoma, Hepatomegaly, Intermittent jaundice, Adrenocortical ade... |
ORPHA:97261 |
Kosaki Overgrowth Syndrome |
|
Xanthelasma, Myofibromatosis, Thin skin |
OMIM:616592 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Recurrent cutaneous abscess formation, Squamous cell carcinoma |
OMIM:613736 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
Lynch Syndrome 5 |
|
Neoplasm of the pancreas, Endometrial carcinoma, Ovarian neoplasm |
OMIM:614350 |
Focal Dermal Hypoplasia |
|
Macule, Aplasia/Hypoplasia of the skin, Skin nodule, Subcutaneous nodule, Patent ductus arteriosu... |
ORPHA:2092 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Sparse scalp hair, Pancreatic adenocarcinoma, Adrenal hyperplasia, Pancreatoblastoma, Pituitary c... |
ORPHA:99889 |
Transcobalamin Ii Deficiency |
|
Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased... |
OMIM:275350 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Thin skin |
OMIM:201170 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Splenomegaly, Hypere... |
OMIM:615387 |
Xeroderma Pigmentosum Variant |
|
Melanoma, Basal cell carcinoma, Dermal atrophy, Squamous cell carcinoma |
ORPHA:90342 |
Syndromic Diarrhea |
|
Hepatomegaly, Hypopigmentation of hair, Brittle hair, Increased mean platelet volume, Trichorrhex... |
ORPHA:84064 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Recurrent respiratory infections, Elevated circulating aspartate aminotransferase c... |
OMIM:257200 |
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome |
|
Squamous cell carcinoma of the skin |
ORPHA:85112 |
19Q13.11 Microdeletion Syndrome |
|
Aplasia cutis congenita, Thin skin |
ORPHA:217346 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Mucopolysaccharidosis-Plus Syndrome |
|
Synophrys, Low anterior hairline, Leukopenia, Coarse hair, Hypoalbuminemia, Macrovesicular hepati... |
OMIM:617303 |
Xp22.3 Microdeletion Syndrome |
|
Sacral dimple, Aplasia/Hypoplasia of the skin |
ORPHA:1643 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Episodic hemolytic anemia, Hypercalcemia, Enlarged kidney, Increased blood urea nitrogen |
ORPHA:251004 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Decreased serum iron, Squamous cell carcinoma, Anemia, Decreased serum zinc, Hypoalbuminemia, Dec... |
ORPHA:89842 |
Hereditary Mixed Polyposis Syndrome |
|
Refractory anemia, Endometrial carcinoma, Juvenile colonic polyposis, Desmoid tumors, Thyroid car... |
ORPHA:157794 |
Camptodactyly, Tall Stature, And Hearing Loss Syndrome |
|
Osteochondroma |
OMIM:610474 |
Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia |
OMIM:612527 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Hypercalcemia, Fibroma, Primary ... |
ORPHA:99880 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Lymphoproliferative disorder, Portal h... |
OMIM:615688 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... |
ORPHA:101096 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Atrophic scars, Milia, Congenital localized absence of skin |
OMIM:226700 |
Myelofibrosis |
|
Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia... |
OMIM:150550 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut... |
OMIM:243150 |
Prolidase Deficiency |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Recurr... |
OMIM:170100 |
Hereditary Acrokeratotic Poikiloderma |
|
Eczema, Pustule, Hypopigmented skin patches, Skin ulcer, Squamous cell carcinoma, Thin skin, Papu... |
ORPHA:2907 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Hypercalcemia, Fibroma, Primary ... |
ORPHA:143 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent respiratory infections, Pancytopenia, Autoimmune hemolytic anemia, Chronic hepatitis du... |
ORPHA:572 |
Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen... |
ORPHA:97278 |
Osteogenesis Imperfecta, Type Ii |
|
Thin skin |
OMIM:166210 |
Schopf-Schulz-Passarge Syndrome |
|
Poroma, Squamous cell carcinoma, Basal cell carcinoma, Nail dystrophy, Sparse hair, Sparse body h... |
OMIM:224750 |
Pituitary Adenoma 4, Acth-Secreting |
|
Pituitary adenoma, Thin skin, Striae distensae |
OMIM:219090 |
Cinca Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ... |
ORPHA:1451 |
Thrombocythemia 1 |
|
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... |
OMIM:187950 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the pancreas, Brain abscess, Juvenile gastrointestinal polyposis, Juvenile colonic po... |
ORPHA:2929 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Thin skin |
OMIM:607823 |
Amme Complex |
|
Elliptocytosis |
OMIM:300194 |
Lhermitte-Duclos Disease |
|
Trichilemmoma, Fibroadenoma of the breast, Neoplasm of the thyroid gland, Ovarian neoplasm |
ORPHA:65285 |
Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Hepatic failure, Ascites, Anemia |
ORPHA:75233 |
Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Patent ductus arteriosus, Increased mean corpuscular volume, Macrocy... |
OMIM:612561 |
Immunodeficiency 60 And Autoimmunity |
|
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Decreased circula... |
OMIM:618394 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... |
OMIM:619658 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Leukocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy |
OMIM:611762 |
Aplasia Cutis-Myopia Syndrome |
|
Aplasia cutis congenita, Skin ulcer |
ORPHA:1117 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Interstitial pneumoniti... |
OMIM:620296 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Patent ductus arteriosus, Micronodular cirrhosis, Synop... |
OMIM:606003 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff... |
OMIM:612714 |
Hyper-Igd Syndrome |
|
Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatos... |
OMIM:260920 |
Multiple Endocrine Neoplasia Type 1 |
|
Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea... |
ORPHA:652 |
Diamond-Blackfan Anemia 5 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Leukopenia |
OMIM:612528 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Cryptorchidism, HbH hemoglobin, Aplasia/Hypoplasia of the eyebrow, Microcytic anemia |
ORPHA:98791 |
Catastrophic Antiphospholipid Syndrome |
|
Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:464343 |
Marshall-Smith Syndrome |
|
Thin skin |
ORPHA:561 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Thin skin, Striae distensae |
OMIM:610489 |
Xeroderma Pigmentosum |
|
Macule, Hypermelanotic macule, Hypopigmented skin patches, Melanocytic nevus, Melanoma, Neoplasm,... |
ORPHA:910 |
Hepatoerythropoietic Porphyria |
|
Facial hypertrichosis, Hemolytic anemia, Scarring alopecia of scalp, Abnormal circulating porphyr... |
ORPHA:95159 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Recurrent pneumonia, ... |
OMIM:610163 |
Tarp Syndrome |
|
Extramedullary hematopoiesis, Abnormal hair pattern, Cryptorchidism, Pulmonary hypoplasia, Thick ... |
ORPHA:2886 |
Rothmund-Thomson Syndrome |
|
Calcinosis, Aplastic anemia, Sparse eyelashes, Myelodysplasia, Alopecia totalis, Sparse eyebrow, ... |
ORPHA:2909 |
Hemophagocytic Syndrome Associated With An Infection |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, In... |
ORPHA:158048 |
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:266120 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Patent ductus arteriosus, Recurrent upper respiratory tract infections, Recurrent pneumonia, Pers... |
OMIM:619769 |
Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Cryptorchidism, Patent ductus... |
OMIM:163950 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Hypopigmentation of hair, Splenomegaly, Jaundice, Hyperlipidemia, Lym... |
ORPHA:79477 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Abetalipoproteinemia, Acanthocytosis |
ORPHA:157850 |
17Q11 Microdeletion Syndrome |
|
Multiple mucosal neuromas, Brain neoplasm, Glioma, Cerebellar glioma, Rhabdomyosarcoma, Myelodysp... |
ORPHA:97685 |
Immunodeficiency 47 |
|
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... |
OMIM:300972 |
Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Atrophic scars, Thin skin |
OMIM:130080 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Alopecia, Recurrent pneumonia, B... |
OMIM:616576 |
Gaucher Disease, Type Iii |
|
Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatomegaly |
OMIM:231000 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemo... |
OMIM:301078 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Spleno... |
OMIM:602450 |
Czech Dysplasia |
|
Osteochondroma |
OMIM:609162 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... |
ORPHA:905 |
Adult Syndrome |
|
Dermal atrophy, Eczema, Thin skin |
OMIM:103285 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase c... |
OMIM:614576 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Hyperpro... |
ORPHA:90041 |
Short Syndrome |
|
Thin skin |
OMIM:269880 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Cafe-au-lait spot, Thin skin |
OMIM:617804 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Increased serum iron, C... |
OMIM:602390 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Abnormal pulmonary interstitial morpholo... |
ORPHA:77259 |
Sarcoidosis |
|
Increased T cell count, Abnormal lung morphology, Leukopenia, Emphysema, Hemolytic anemia, Hepato... |
ORPHA:797 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste... |
OMIM:612526 |
Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Elevated ... |
ORPHA:829 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Lymphadenopathy,... |
OMIM:617591 |
Zimmermann-Laband Syndrome |
|
Hepatomegaly, Splenomegaly, Gingival fibromatosis, Long eyelashes, Generalized hypertrichosis, Fa... |
ORPHA:3473 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Atrophic scars, Thin skin |
ORPHA:230851 |
Tuberous Sclerosis Complex |
|
Retinal astrocytic hamartoma, Angiofibromas, Retinal hamartoma, Pancreatic endocrine tumor, Pitui... |
ORPHA:805 |
Gitelman Syndrome |
|
Neoplasm of the pancreas, Hypermagnesemia, Iron deficiency anemia, Hypokalemia, Hypocalcemia, Hyp... |
ORPHA:358 |
Pachydermoperiostosis |
|
Abnormal hair quantity, Hepatomegaly, Elevated circulating growth hormone concentration, Abnormal... |
ORPHA:2796 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Brain abscess, Pneumonia, Respiratory tract infection, Leukocytos... |
ORPHA:544482 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Juvenile Polyposis Syndrome |
|
Duodenal adenocarcinoma, Hypokalemia, Hypoalbuminemia, Anemia |
OMIM:174900 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundic... |
OMIM:214900 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ... |
OMIM:271500 |
Huriez Syndrome |
|
Aplasia/Hypoplasia of the skin |
ORPHA:384 |
Hereditary Orotic Aciduria |
|
Recurrent respiratory infections, Impaired T cell function, Splenomegaly, Patent ductus arteriosu... |
ORPHA:30 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Bro... |
OMIM:619381 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia |
ORPHA:88 |
Xeroderma Pigmentosum, Complementation Group F |
|
Seborrheic keratosis, Keratoacanthoma, Squamous cell carcinoma, Basal cell carcinoma, Neoplasm of... |
OMIM:278760 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Patent ductus arteriosus, Elliptocytosis, Anemia, Synophrys |
OMIM:300990 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Eczema, Thin skin, Erythroderma |
OMIM:615895 |
Adult Syndrome |
|
Thin skin, Skin ulcer, Melanocytic nevus |
ORPHA:978 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Aplasia cutis congenita |
OMIM:612138 |
Turcot Syndrome With Polyposis |
|
Glioblastoma multiforme, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Glioma, Pilomatrixoma... |
ORPHA:99818 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Oropharyngeal squamous cell carcinoma, Autoimmune thrombocytopenia, ... |
ORPHA:391487 |
Poems Syndrome |
|
Lymphoproliferative disorder, Leukonychia, Lymphadenopathy, Pleural effusion, Increased circulati... |
ORPHA:2905 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Skin vesicle, Aplasia/Hypoplasia of the skin, Dermal atrophy, Papule |
ORPHA:257 |
Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Glioma, Recurrent bronchitis, Rhabdomyosarcoma, Dysgammaglobulinemia... |
OMIM:251260 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin, Prolonged neonatal jaundice |
ORPHA:423479 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Preauricular pit, Patent ductus arteriosus, Thin skin, Webbed neck, Cafe-au-lait spot, Facial hem... |
OMIM:617506 |
Diamond-Blackfan Anemia 12 |
|
Macrocytic anemia, Reticulocytopenia, Normochromic anemia |
OMIM:615550 |
Premature Aging Syndrome, Penttinen Type |
|
Keloids, Skin nodule, Thin skin, Dermal atrophy |
OMIM:601812 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa... |
ORPHA:75234 |
Mandibuloacral Dysplasia |
|
Thin skin |
ORPHA:2457 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Dermal atrophy, Thin skin |
ORPHA:90154 |
Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibro... |
OMIM:557000 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula... |
OMIM:618042 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia |
ORPHA:158029 |
Recon Progeroid Syndrome |
|
Thin skin |
OMIM:620370 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Aplasia/Hypoplasia of the skin, Xanthomatosis, Thin skin |
ORPHA:280365 |
Polycythemia Vera |
|
Hepatomegaly, Myelodysplasia, Portal hypertension, Portal vein thrombosis, Splenomegaly, Acute le... |
ORPHA:729 |
Geroderma Osteodysplastica |
|
Thin skin |
ORPHA:2078 |
Aredyld Syndrome |
|
Hepatomegaly, Splenomegaly, Refractory anemia with ringed sideroblasts, Sparse body hair, Aplasia... |
ORPHA:1133 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Thin skin |
ORPHA:449291 |
Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... |
OMIM:619463 |
Cowden Syndrome 6 |
|
Goiter, Fibroadenoma of the breast, Breast carcinoma, Hamartomatous polyposis, Ovarian cyst, Hydr... |
OMIM:615109 |
Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis |
OMIM:608189 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... |
ORPHA:264580 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Thin skin |
ORPHA:1812 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Elevated circulating alpha-feto... |
OMIM:251880 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow... |
OMIM:602540 |
Hypohidrotic Ectodermal Dysplasia |
|
Eczema, Thin skin |
ORPHA:238468 |
Localized Junctional Epidermolysis Bullosa |
|
Scarring alopecia of scalp, Atypical scarring of skin, Aplasia cutis congenita, Skin detachment, ... |
ORPHA:251393 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Dermal atrophy, Thin skin |
ORPHA:90153 |
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Early balding, Desmoid tumors, Low posterior hairline, Iron deficiency anemia, Osteoma, Hepatobla... |
ORPHA:261584 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Hypocalcemia, Thrombocytopenia |
OMIM:259700 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Thin skin |
OMIM:617602 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Thin skin |
OMIM:614438 |
Idiopathic Hypereosinophilic Syndrome |
|
Elevated hepatic transaminase, Neutrophilia, Generalized lymphadenopathy, Eosinophilia, Myelodysp... |
ORPHA:3260 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Hypoalbuminemia, Neoplas... |
ORPHA:171 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Hypopigmentation of hair, Thrombocytopen... |
OMIM:214500 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia, Increased total bilirubin |
ORPHA:90037 |
Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia |
ORPHA:85212 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Cardiomegaly, Splenomegaly, Increased circ... |
OMIM:235200 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... |
ORPHA:79240 |
Glass Syndrome |
|
Thin skin |
OMIM:612313 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Thin skin |
ORPHA:1901 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Jaundice, Chronic calcifying pancreatitis, Abnormal pancreatic duct mo... |
ORPHA:103918 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal reticulocyte morphology |
ORPHA:2522 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Chédiak-Higashi Syndrome |
|
Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, Neutrop... |
ORPHA:167 |
Glycogen Storage Disease Ixb |
|
Splenomegaly, Increased hepatic glycogen content, Hyperuricemia, Hepatomegaly |
OMIM:261750 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Autoimmune thrombocy... |
ORPHA:77293 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Increased circulating IgE level, Imbalanced hemoglobin s... |
ORPHA:330015 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Alopecia, Lymphadenopathy, Leukopenia, Thrombocytopenia |
ORPHA:536 |
Multiple Myeloma |
|
Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con... |
ORPHA:29073 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, H... |
OMIM:306000 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Recurrent respiratory infections, Intermittent thrombocytopenia, Perianal abscess, ... |
OMIM:612541 |
Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa... |
OMIM:613280 |
Immunodeficiency 42 |
|
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly |
OMIM:616622 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Abnormal blood ion concentration, Iron deficiency anemia, Hypoalbuminemia, Hypocalcemia, Neutrope... |
ORPHA:37042 |
Idiopathic Pulmonary Arterial Hypertension |
|
Chronic hemolytic anemia, Right ventricular hypertrophy |
ORPHA:275766 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
De Barsy Syndrome |
|
Patent ductus arteriosus, Thin skin |
ORPHA:2962 |
Diamond-Blackfan Anemia 10 |
|
Macrocytic anemia, Patent ductus arteriosus, Reticulocytopenia, Steroid-responsive anemia, Anemia |
OMIM:613309 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Primary hyperparathyroidism, Hypophosphate... |
OMIM:239200 |
Tolchin-Le Caignec Syndrome |
|
Osteochondroma, Thick eyebrow, Hirsutism, Cardiac rhabdomyoma |
OMIM:618971 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Anemia, Decreased circulating total IgM, Decreas... |
OMIM:612301 |
Osteogenesis Imperfecta, Type I |
|
Thin skin |
OMIM:166200 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Schwannoma, Ossifying fibroma, Lisch nodules, Neurofibrosarcoma, Hemangioma, Subcutaneous neurofi... |
ORPHA:363700 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Hypolysinemia, Splenomegaly, Increased circulating ferritin concentration, Intraalv... |
OMIM:222700 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia, Elevated circulating luteinizing hormone level |
OMIM:250790 |
Stuve-Wiedemann Syndrome 1 |
|
Milia, Thin skin |
OMIM:601559 |
Adams-Oliver Syndrome 5 |
|
Hypersplenism, Splenomegaly, Portal vein thrombosis, Cavernous hemangioma, Dystrophic toenail, Ri... |
OMIM:616028 |
Sotos Syndrome |
|
Sacrococcygeal teratoma, Astrocytoma, Hypercalcemia, Small cell lung carcinoma, Patent ductus art... |
ORPHA:821 |
Kaufman Oculocerebrofacial Syndrome |
|
Preauricular skin tag, Thin skin |
OMIM:244450 |
Choreoacanthocytosis |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... |
ORPHA:2388 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Renal neoplasm, Atrophic scars, Thin skin |
ORPHA:536467 |
Rapp-Hodgkin Syndrome |
|
Thin skin |
OMIM:129400 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Sparse scalp hair, Sparse eyelashes, Portal hypertension, Sparse eyebrow, Splenomeg... |
ORPHA:59303 |
Ataxia-Telangiectasia |
|
Multiple cafe-au-lait spots, Aplasia/Hypoplasia of the skin, Neoplasm |
ORPHA:100 |
Multiple Osteochondromas |
|
Osteochondroma, Chondrosarcoma, Pneumothorax, Rib exostoses, Scapular exostoses, Hemothorax |
ORPHA:321 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Hypokalemia |
ORPHA:18 |
Recurrent Respiratory Papillomatosis |
|
Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn... |
ORPHA:60032 |
Flynn-Aird Syndrome |
|
Dermal atrophy |
OMIM:136300 |
Arterial Tortuosity Syndrome |
|
Thin skin |
OMIM:208050 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Nephroblastoma, Rhabdomyosarcoma, Elevated circulating alpha-fetoprotein concentrat... |
ORPHA:116 |
Majeed Syndrome |
|
Hepatomegaly, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Hypochromic microcytic a... |
ORPHA:77297 |
Trichothiodystrophy |
|
Sparse scalp hair, Brittle hair, Cryptorchidism, Recurrent bronchopulmonary infections, Increased... |
ORPHA:33364 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Atrophic scars, Numerous nevi, Thin skin, Exostoses |
ORPHA:536471 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Eczema, Thin skin, Hypoplastic-absent sebaceous glands |
OMIM:305100 |
Focal Facial Dermal Dysplasia Type Iii |
|
Multiple cafe-au-lait spots, Aplasia/Hypoplasia of the skin, Hypopigmented skin patches |
ORPHA:1807 |
Papillon-Lefèvre Syndrome |
|
Recurrent respiratory infections, Recurrent cutaneous abscess formation, Liver abscess, Squamous ... |
ORPHA:678 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Thin skin |
ORPHA:2719 |
Proteus-Like Syndrome |
|
Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ovaries, Bronc... |
ORPHA:2969 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly |
OMIM:610293 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po... |
OMIM:602347 |
Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Pneumonia, Splenomegaly, Hepatitis, Abnormal pulmona... |
ORPHA:781 |
Sepsis In Premature Infants |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ... |
ORPHA:90051 |
Whipple Disease |
|
Hyponatremia, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Pleuritis, Anemia |
ORPHA:3452 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Multiple pulmonary cysts, Hypertriglyceridemia, Splenomegaly, Mic... |
OMIM:619418 |
Chromomycosis |
|
Lymphangiectasis, Abnormal lung morphology, Multiple cutaneous malignancies, Squamous cell carcinoma |
ORPHA:182 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Thin skin |
OMIM:612199 |
Legionnaires Disease |
|
Hyponatremia, Abnormal pleura morphology, Splenomegaly, Jaundice, Abnormal lung morphology, Recur... |
ORPHA:549 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Splenomegaly, Portal hypertension, Hepatomegaly |
OMIM:617068 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hepatic failure, Hyperammonemia |
ORPHA:664 |
Arterial Tortuosity Syndrome |
|
Thin skin |
ORPHA:3342 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... |
ORPHA:309854 |
Adams-Oliver Syndrome 3 |
|
Aplasia cutis congenita |
OMIM:614814 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Aplasia cutis congenita on trunk or limbs, Aplasia cutis congenita of scalp |
OMIM:619817 |
Kikuchi-Fujimoto Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Generalized lymphadenopathy, Elevated circ... |
ORPHA:50918 |
Trichohepatoenteric Syndrome 1 |
|
Brittle hair, Hepatic fibrosis, Hypoalbuminemia, Sparse hair, Hepatomegaly, Increased mean platel... |
OMIM:222470 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly |
OMIM:619183 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Lymphadenopath... |
ORPHA:85414 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
Brucellosis |
|
Liver abscess, Elevated circulating C-reactive protein concentration, Bronchitis, Leukopenia, Abn... |
ORPHA:1304 |
Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Pneumothorax, Bronchiectasis, Abnormal p... |
OMIM:612387 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... |
ORPHA:53035 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl... |
OMIM:211600 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Abnormal circulating selenium concentration, Squamous cell carcinoma, Iron deficiency anemia, Bas... |
ORPHA:79408 |
Gray Platelet Syndrome |
|
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ... |
OMIM:139090 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Splenomegaly, Anemia, Bronchiolitis, Recurrent aspiration pneumonia, Thrombocytopenia |
OMIM:230900 |
Cushing Disease |
|
Acne, Pituitary corticotropic cell adenoma, Recurrent cutaneous fungal infections, Skin ulcer, Th... |
ORPHA:96253 |
Subacute Cutaneous Lupus Erythematosus |
|
Discoid lupus rash, Malar rash, Annular cutaneous lesion, Dermal atrophy |
ORPHA:163525 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prolif... |
OMIM:613027 |
Tyrosinemia, Type I |
|
Hypertyrosinemia, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, Elevated ci... |
OMIM:276700 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent... |
OMIM:601847 |
Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Acute hepatitis, Splenomegaly, Fulminant hepatiti... |
ORPHA:2137 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Aplasia cutis congenita, Asymmetric, linear skin defects |
OMIM:300887 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Acanthocytosis |
OMIM:234200 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Cryptorchidism, Abnormal hemoglobin, Anemia |
ORPHA:847 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Fetal ascites, Synophrys, Hypocalcemia, Th... |
OMIM:619503 |
Epidermodysplasia Verruciformis |
|
Verrucae, Squamous cell carcinoma |
ORPHA:302 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,... |
OMIM:607765 |
Loeys-Dietz Syndrome |
|
Atypical scarring of skin, Patent ductus arteriosus, Thin skin, Striae distensae |
ORPHA:60030 |
Kindler Epidermolysis Bullosa |
|
Neoplasm of the urethra, Anemia, Squamous cell carcinoma |
ORPHA:2908 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Intrah... |
OMIM:613812 |
Liver Disease, Severe Congenital |
|
Dry hair, Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Hypocalcemia, Elevated he... |
OMIM:619991 |
Severe Generalized Junctional Epidermolysis Bullosa |
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Alopecia, Pneumonia, Pneumothorax, Abnormal blood ion concentration, Renal tubular epithelial nec... |
ORPHA:79404 |
Bile Acid Synthesis Defect, Congenital, 2 |
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Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Hy... |
OMIM:235555 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
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Molluscoid pseudotumors, Thin skin |
OMIM:225400 |
Stiff Skin Syndrome |
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Subcutaneous nodule, Aplasia/Hypoplasia of the skin |
ORPHA:2833 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
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Juvenile myelomonocytic leukemia, Highly arched eyebrow, Splenomegaly, Cryptorchidism, Hepatosple... |
OMIM:613563 |
Meier-Gorlin Syndrome 1 |
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Thin skin |
OMIM:224690 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
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Hepatomegaly, Neutrophilia, Abscess, Elevated circulating C-reactive protein concentration, Splen... |
OMIM:612852 |
Xeroderma Pigmentosum, Complementation Group A |
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Hypermelanotic macule, Melanoma, Squamous cell carcinoma of the skin, Dermal atrophy, Verrucous e... |
OMIM:278700 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
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Lipoma, Splenomegaly, Nephroblastoma |
OMIM:612918 |
Ectodermal Dysplasia And Immunodeficiency 1 |
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Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... |
OMIM:300291 |
Glycogen Storage Disease Ic |
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Hepatomegaly, Cyclic neutropenia, Chronic pancreatitis, Hyperlipidemia, Recurrent upper respirato... |
OMIM:232240 |
Familial Tumoral Calcinosis |
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Splenomegaly, Neoplasm of the skin, Hepatomegaly |
ORPHA:53715 |
Hennekam Syndrome |
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Benign neoplasm of the central nervous system, Recurrent respiratory infections, Sparse axillary ... |
ORPHA:2136 |
Fish-Eye Disease |
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Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy, Hepatomegaly |
ORPHA:79292 |
Xeroderma Pigmentosum, Complementation Group E |
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Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Dermal atrophy |
OMIM:278740 |
Gaucher Disease Type 3 |
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Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Splenomegaly, Abnormal pulmonary in... |
ORPHA:77261 |
Nephronophthisis 19 |
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Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Trichothiodystrophy 1, Photosensitive |
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Brittle hair, Trichoschisis, Squamous cell carcinoma, Fine hair, Basal cell carcinoma, Nail dystr... |
OMIM:601675 |
Immunodeficiency 31C |
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Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
Tooth Agenesis, Selective, 4 |
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Thin skin |
OMIM:150400 |
Infantile Liver Failure Syndrome 3 |
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Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... |
OMIM:618641 |
Oculocerebrocutaneous Syndrome |
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Skin tags, Aplasia/Hypoplasia of the skin, Hypopigmented skin patches, Preauricular skin tag, Exo... |
ORPHA:1647 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
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Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... |
OMIM:619849 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
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Thin skin |
OMIM:266920 |
Helsmoortel-Van Der Aa Syndrome |
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Thin skin |
OMIM:615873 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
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Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... |
OMIM:208540 |
Xeroderma Pigmentosum, Variant Type |
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Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma |
OMIM:278750 |
Kabuki Syndrome 1 |
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Hemolytic anemia, Highly arched eyebrow, Autoimmune thrombocytopenia, Sparse eyebrow, Cryptorchid... |
OMIM:147920 |
Lenz-Majewski Hyperostotic Dwarfism |
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Thin skin |
OMIM:151050 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
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Atypical scarring of skin, Thin skin |
ORPHA:536545 |
Even-Plus Syndrome |
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Aplasia cutis congenita, Atopic dermatitis |
OMIM:616854 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
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Cryptorchidism, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
Zimmermann-Laband Syndrome 1 |
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Hepatomegaly, Thick eyebrow, Thick hair, Highly arched eyebrow, Splenomegaly, Synophrys, Patent d... |
OMIM:135500 |
Chronic Granulomatous Disease |
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Hepatomegaly, Recurrent respiratory infections, Liver abscess, Abnormality of neutrophils, Spleno... |
ORPHA:379 |
Trichorhinophalangeal Syndrome, Type Ii |
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Osteochondroma, Recurrent respiratory infections, Sparse scalp hair, Bilateral cryptorchidism, Re... |
OMIM:150230 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
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Alopecia, Multinodular goiter, Squamous cell carcinoma, Nail dystrophy, Alopecia of scalp |
OMIM:618373 |
Familial Mediterranean Fever |
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Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Orchitis, Sple... |
OMIM:249100 |
Felty Syndrome |
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Splenomegaly, Neutropenia |
OMIM:134750 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
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Hepatomegaly, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse eyebrow, Spleno... |
OMIM:607626 |
Dermatoosteolysis, Kirghizian Type |
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Aplasia/Hypoplasia of the skin, Skin ulcer |
ORPHA:1657 |
Xeroderma Pigmentosum, Complementation Group C |
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Basal cell carcinoma, Squamous cell carcinoma of the skin, Dermal atrophy, Cutaneous melanoma, Ac... |
OMIM:278720 |
Sclerosing Cholangitis, Neonatal |
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Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Sclero... |
OMIM:617394 |
Leukocyte Adhesion Deficiency |
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Acute myeloid leukemia, Pneumonia, Lymphocytic interstitial pneumonia, Respiratory tract infectio... |
ORPHA:2968 |
Immunodeficiency 17 |
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Recurrent respiratory infections, Autoimmune hemolytic anemia, Decreased proportion of CD8-positi... |
OMIM:615607 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertrigly... |
OMIM:256040 |
Ablepharon Macrostomia Syndrome |
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Thin skin |
ORPHA:920 |
Glycogen Storage Disease Ib |
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Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Hyperlipidemia, N... |
OMIM:232220 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
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Sparse eyelashes, Trichiasis, Sparse eyebrow, Absent pubic hair, Squamous cell carcinoma, Nail dy... |
OMIM:148210 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Hemolytic anemia, Elevated circulating creatine kinase concentration |
OMIM:175780 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
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Aplasia cutis congenita on trunk or limbs, Scarring alopecia of scalp, Skin erosion, Atrophic sca... |
ORPHA:158684 |
Warburg-Cinotti Syndrome |
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Thin skin, Cholesteatoma |
OMIM:618175 |
Acrofacial Dysostosis, Palagonia Type |
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Aplasia/Hypoplasia of the skin, Dermal atrophy |
ORPHA:1787 |
Autosomal Recessive Malignant Osteopetrosis |
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Hepatomegaly, Recurrent respiratory infections, Abnormality of hair texture, Splenomegaly, Pulmon... |
ORPHA:667 |
Simpson-Golabi-Behmel Syndrome |
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Hepatomegaly, Nephroblastoma, Supernumerary nipple, Splenomegaly, Cryptorchidism, Increased circu... |
ORPHA:373 |
Restrictive Dermopathy 1 |
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Skin erosion, Patent ductus arteriosus, Thin skin |
OMIM:275210 |
Apolipoprotein C-Ii Deficiency |
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Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
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Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Recurrent pneumonia, Lymphadenopathy, I... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
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Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Recurrent pneumonia, Lymphadenopathy, I... |
OMIM:233710 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
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Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Recurrent pneumonia, Lymphadenopathy, I... |
OMIM:233690 |
Granulomatous Disease, Chronic, X-Linked |
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Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Atelectasis, Recurrent pneumonia, Lymph... |
OMIM:306400 |
Parenteral Nutrition-Associated Cholestasis |
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Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... |
ORPHA:567983 |
Curry-Jones Syndrome |
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Aplasia/Hypoplasia of the skin, Hypopigmented skin patches |
ORPHA:1553 |
Nodular Non-Suppurative Panniculitis |
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Subcutaneous nodule, Aplasia/Hypoplasia of the skin |
ORPHA:33577 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
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Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Pancreatic cysts, S... |
OMIM:610199 |
Gaucher Disease |
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Hepatomegaly, Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, ... |
ORPHA:355 |
Blau Syndrome |
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Clear cell renal cell carcinoma, Splenomegaly, Lymphadenopathy, Abnormality of the liver, Abnorma... |
ORPHA:90340 |
Hardikar Syndrome |
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Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... |
OMIM:301068 |
Pallister-Hall Syndrome |
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Osteochondroma, Thyroid hypoplasia, Hypopituitarism, Midline facial capillary hemangioma, Cryptor... |
ORPHA:672 |
Isolated Biliary Atresia |
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Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Conjuga... |
ORPHA:30391 |
Cutis Marmorata Telangiectatica Congenita |
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Aplasia/Hypoplasia of the skin, Blue nevus, Patent ductus arteriosus, Capillary hemangioma, Multi... |
ORPHA:1556 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
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Thin skin |
OMIM:129900 |
Lipodystrophy, Congenital Generalized, Type 2 |
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Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated h... |
OMIM:269700 |
Sarcoidosis, Susceptibility To, 1 |
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Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Abnormality of T cell physiology, Spleno... |
OMIM:181000 |
Hyperlipoproteinemia, Type Id |
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Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Pancre... |
OMIM:615947 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
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Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidemia, V... |
ORPHA:565612 |
Wiedemann-Rautenstrauch Syndrome |
|
Thin skin |
OMIM:264090 |
Xeroderma Pigmentosum, Complementation Group B |
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Basal cell carcinoma, Neoplasm, Squamous cell carcinoma of the skin, Dermal atrophy, Cutaneous me... |
OMIM:610651 |
Hyperlipoproteinemia, Type I |
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Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulati... |
OMIM:238600 |
Lyme Disease |
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Skin nodule, Dermal atrophy |
ORPHA:91546 |
Crimean-Congo Hemorrhagic Fever |
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Elevated circulating creatine kinase concentration, Leukopenia, Increased circulating IgG level, ... |
ORPHA:99827 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
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Splenomegaly, Patent ductus arteriosus, Hamartoma, Hepatomegaly |
OMIM:617088 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Aplasia/Hypoplasia of the skin |
ORPHA:1979 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
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Skin rash, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Dermal atrophy |
ORPHA:220295 |
Wiedemann-Rautenstrauch Syndrome |
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Recurrent skin infections, Thin skin |
ORPHA:3455 |
Acute Radiation Syndrome |
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Inflammatory abnormality of the skin, Dermal atrophy, Skin ulcer |
ORPHA:454831 |
Digeorge Syndrome |
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Parathyroid agenesis, Impaired T cell function, Splenomegaly, Patent ductus arteriosus, Atelectas... |
OMIM:188400 |
Hypermobile Ehlers-Danlos Syndrome |
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Atypical scarring of skin, Subcutaneous nodule, Thin skin |
ORPHA:285 |
Gaucher Disease, Type Iiic |
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Splenomegaly, Pancytopenia, Cardiomegaly, Hepatomegaly |
OMIM:231005 |
Ablepharon-Macrostomia Syndrome |
|
Thin skin |
OMIM:200110 |
Lipodystrophy, Familial Partial, Type 7 |
|
Thin skin |
OMIM:606721 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Skin erosion, Aplasia cutis congenita |
OMIM:609638 |
Desmosterolosis |
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Patent ductus arteriosus, Aplasia/Hypoplasia of the skin, Dermal atrophy |
ORPHA:35107 |
Dysosteosclerosis |
|
Aplasia/Hypoplasia of the skin |
ORPHA:1782 |
Reynolds Syndrome |
|
Calcinosis, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Biliary cirrhosi... |
OMIM:613471 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Aplasia cutis congenita on trunk or limbs, Recurrent skin infections, Atrophic scars, Squamous ce... |
ORPHA:79396 |
Adams-Oliver Syndrome |
|
Aplasia cutis congenita, Aplasia/Hypoplasia of the skin |
ORPHA:974 |
Vascular Ehlers-Danlos Syndrome |
|
Macule, Subcutaneous nodule, Cigarette-paper scars, Melanocytic nevus, Thin skin |
ORPHA:286 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Dermal atrophy |
ORPHA:69735 |
Hoyeraal-Hreidarsson Syndrome |
|
Neoplasm, Dermal atrophy |
ORPHA:3322 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Aplasia/Hypoplasia of the skin, Nevus, Webbed neck |
ORPHA:2990 |
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Hypoplastic pilosebaceous units |
OMIM:601345 |
Xeroderma Pigmentosum, Complementation Group D |
|
Melanoma, Dermal atrophy |
OMIM:278730 |
Barber-Say Syndrome |
|
Aplasia/Hypoplasia of the skin |
ORPHA:1231 |
Oculoectodermal Syndrome |
|
Preauricular skin tag, Aplasia cutis congenita, Patent ductus arteriosus, Epidermal nevus |
OMIM:600268 |
Eec Syndrome |
|
Aplasia/Hypoplasia of the skin, Lymphoma, Nevus |
ORPHA:1896 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Aplasia cutis congenita, Recurrent skin infections |
ORPHA:79403 |
Toriello-Lacassie-Droste Syndrome |
|
Aplasia/Hypoplasia of the skin |
ORPHA:3339 |
Kindler Syndrome |
|
Dermal atrophy, Spotty hypopigmentation, Diffuse skin atrophy |
OMIM:173650 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Cystathioni... |
OMIM:277400 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Sacral dimple, Aplasia/Hypoplasia of the skin, Hypopigmented skin patches, Dermal atrophy |
ORPHA:2556 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Aplasia/Hypoplasia of the skin |
ORPHA:2658 |
Branchiooculofacial Syndrome |
|
Preauricular pit, Lower lip pit, Dermoid cyst, Postauricular pit, Atypical scarring of skin, Supr... |
OMIM:113620 |