Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
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Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Salivary Gland Adenoma, Pleomorphic |
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Salivary gland neoplasm |
OMIM:181030 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
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Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto... |
ORPHA:67044 |
Cheilitis Glandularis |
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Abnormal salivary gland morphology, Thick lower lip vermilion |
ORPHA:1221 |
Van Der Woude Syndrome |
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Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Iron-Refractory Iron Deficiency Anemia |
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Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis |
OMIM:206200 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
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Abnormal salivary gland morphology |
ORPHA:3225 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
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Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Kimura Disease |
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Abnormal salivary gland morphology, Eosinophilia |
ORPHA:482 |
Anemia, Congenital Dyserythropoietic, Type Ib |
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Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery... |
OMIM:615631 |
Overhydrated Hereditary Stomatocytosis |
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Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
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Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... |
ORPHA:86841 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
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Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
Hemoglobin D Disease |
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Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
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Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype... |
OMIM:616860 |
Anemia, Congenital Dyserythropoietic, Type Ia |
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Hemolytic anemia, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, S... |
OMIM:224120 |
Anemia, Congenital Dyserythropoietic, Type Iv |
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Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Congenital Dyserythropoietic Anemia Type Iii |
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Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Gingival bleedi... |
ORPHA:98870 |
Brooke-Spiegler Syndrome |
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Abnormality of the sublingual glands, Abnormality of the submandibular glands, Salivary gland neo... |
ORPHA:79493 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
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Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... |
OMIM:300908 |
Variant Abeta2M Amyloidosis |
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Intestinal perforation, Abnormal salivary gland morphology, Abnormality of the tongue |
ORPHA:314652 |
Orotic Aciduria |
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Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi... |
OMIM:258900 |
Rh Deficiency Syndrome |
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Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... |
ORPHA:71275 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
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Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia |
OMIM:616959 |
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of |
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Enlargement of parotid gland |
OMIM:600343 |
Oxoglutaric Aciduria |
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Abnormal salivary gland morphology |
ORPHA:31 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
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Wide mouth, Anisocytosis |
OMIM:604273 |
Igg4-Related Submandibular Gland Disease |
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Eosinophilia, Xerostomia, Enlarged lacrimal glands, Abnormal pancreas morphology, Enlargement of ... |
ORPHA:449432 |
Dominant Beta-Thalassemia |
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Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... |
ORPHA:231226 |
Al Amyloidosis |
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Howell-Jolly bodies, Xerostomia, Macroglossia, Abnormal salivary gland morphology, Anemia |
ORPHA:85443 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... |
OMIM:618278 |
Muir-Torre Syndrome |
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Adenoma sebaceum, Colon cancer, Neoplasm of the stomach, Salivary gland neoplasm |
ORPHA:587 |
Melioidosis |
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Abnormality of the spleen, Splenic abscess, Abnormal parotid gland morphology, Parotitis |
ORPHA:31202 |
Igg4-Related Dacryoadenitis And Sialadenitis |
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Xerostomia, Enlarged lacrimal glands, Enlargement of parotid gland, Nodular goiter, Abnormal sali... |
ORPHA:79078 |
Igg4-Related Thyroid Disease |
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Pancreatic fibrosis, Abnormal pituitary gland morphology, Euthyroid goiter, Nodular goiter, Siala... |
ORPHA:64744 |
Insulin-Resistance Syndrome Type B |
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Enlarged ovaries, Enlarged polycystic ovaries, Polycystic ovaries, Leukopenia, Abnormal salivary ... |
ORPHA:2298 |
Lacrimoauriculodentodigital Syndrome |
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Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Cryptorchidism, E... |
ORPHA:2363 |
Treacher Collins Syndrome 1 |
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Cleft soft palate, Cryptorchidism, Cleft palate, Wide mouth, Abnormal parotid gland morphology, N... |
OMIM:154500 |
Congenital Erythropoietic Porphyria |
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Hemolytic anemia, Reticulocytosis, Erythrodontia, Anisocytosis, Splenomegaly, Leukopenia, Poikilo... |
ORPHA:79277 |
Benign Schwannoma |
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Intestinal polyposis, Abnormal parotid gland morphology, Abnormal esophagus morphology |
ORPHA:252164 |
Sarcoidosis, Susceptibility To, 1 |
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Pancytopenia, Splenomegaly, Enlarged lacrimal glands, Inflammation of the large intestine, Abnorm... |
OMIM:181000 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
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Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a... |
OMIM:129900 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
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Anal stenosis, Absence of Stensen duct, Decreased response to growth hormone stimulation test, Se... |
OMIM:604292 |
Darier-White Disease |
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Enlargement of parotid gland |
OMIM:124200 |
Blau Syndrome |
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Splenomegaly, Abnormal salivary gland morphology, Xerostomia, Anemia |
ORPHA:90340 |
Igg4-Related Ophthalmic Disease |
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Eosinophilia, Orchitis, Abnormality of the anterior pituitary, Enlarged lacrimal glands, Colon ca... |
ORPHA:449563 |
Lacrimoauriculodentodigital Syndrome 1 |
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Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious... |
OMIM:149730 |
Kikuchi-Fujimoto Disease |
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Splenomegaly, Oral ulcer, Anemia, Leukopenia, Enlargement of parotid gland, Lymphocytosis, Neutro... |
ORPHA:50918 |
Igg4-Related Kidney Disease |
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Sialadenitis, Abnormality of the anterior pituitary, Eosinophilia |
ORPHA:449395 |
Neurofibroma |
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Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding |
ORPHA:252183 |
Sarcoidosis |
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Hemolytic anemia, Parotitis, Eosinophilia, Increased T cell count, Enlarged lacrimal glands, Anem... |
ORPHA:797 |