Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Ménétrier Disease |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Multiple gastric polyps, Hypoprotein... |
ORPHA:2494 |
Immunodeficiency 69 |
|
Increased circulating ferritin concentration, Leukocytosis, Splenomegaly, Skin rash, Hepatospleno... |
OMIM:618963 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Ane... |
OMIM:205950 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Cystic acne, Colitis, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, ... |
OMIM:604416 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... |
ORPHA:766 |
Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Myelodysplasia, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:300448 |
Iron-Refractory Iron Deficiency Anemia |
|
Elevated hepcidin level, Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis |
OMIM:206200 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Osteomyelitis, Leukocytosis, Hypochromic anemia, Persistence o... |
ORPHA:232 |
Anemia, Sideroblastic, 5 |
|
Refractory anemia with ringed sideroblasts, Hypochromic microcytic anemia, Neutropenia, Reduced h... |
OMIM:619523 |
Refractory Celiac Disease |
|
Malabsorption, Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Inflammatory abno... |
ORPHA:398063 |
Diamond-Blackfan Anemia 19 |
|
Steroid-responsive anemia, Anemia, Erythroid hypoplasia |
OMIM:618312 |
Focal Segmental Glomerulosclerosis 1 |
|
Anemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Anemia, Sideroblastic, 4 |
|
Sideroblastic anemia, Refractory anemia with ringed sideroblasts, Abnormal erythrocyte morphology |
OMIM:182170 |
Polyposis, gastric |
|
Multiple gastric polyps |
OMIM:175020 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Anisocytosis, Leukopenia, Multiple lineage myelodysplasia, Erythroid hypoplasia, Macrocytic anemi... |
ORPHA:86841 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Bloody diarrhea, Elevated circulating C-reactive protein concentration, Leukocytosis, Ulcerative ... |
OMIM:619398 |
Familial Adenomatous Polyposis 4 |
|
Thyroid adenoma, Stomach cancer |
OMIM:617100 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen... |
ORPHA:75564 |
Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... |
OMIM:603902 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent skin infections, Recurrent sinusitis, Recurrent pneumonia, Bronchiectasis, Atrophic gas... |
OMIM:616576 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Typ... |
OMIM:616860 |
Immunodeficiency 27A |
|
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Di... |
OMIM:209950 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Megaloblastic anemia, Gastritis, Folate-unresponsive megaloblastic anemia, Diarrhea, Abnormal ery... |
ORPHA:2575 |
Plummer-Vinson Syndrome |
|
Decreased circulating ferritin concentration, Cheilitis, Esophageal web, Hypochromic microcytic a... |
ORPHA:54028 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
Transient Erythroblastopenia Of Childhood |
|
Anemia, Transient erythroblastopenia |
OMIM:227050 |
Anemia, Sideroblastic, 1 |
|
Anemia of inadequate production, Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic ... |
OMIM:300751 |
Alpha-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Myelodysplasia, Microcytic a... |
ORPHA:846 |
Gastric Cancer |
|
Stomach cancer |
OMIM:613659 |
Beta-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadism, A... |
ORPHA:848 |
Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia, Compensated hemolytic anemia, Heinz bodies |
OMIM:614164 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... |
OMIM:263300 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Eczema, Vomiting, Macrocytic ... |
OMIM:617780 |
Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Anisocytosis, Diarrhea, Abnormality of iron homeostasis, Jaund... |
ORPHA:231226 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Melena, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Incr... |
ORPHA:98870 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Hypoalbuminemia, Hypoproteinemia, Neutropenia |
OMIM:600351 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Recurrent gastroenteritis, Gastritis, Eczema, Decreased prealbumin level, Vomiting, Type I diabet... |
ORPHA:37042 |
Atransferrinemia |
|
Abnormality of the liver, Atransferrinemia, Hypochromic anemia |
OMIM:209300 |
Asplenia, Isolated Congenital |
|
Thrombocytosis, Asplenia, Howell-Jolly bodies |
OMIM:271400 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... |
OMIM:202700 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Myelodysplasia, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, A... |
ORPHA:231401 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... |
OMIM:615631 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
High palate, Increased circulating ferritin concentration, Hypochromic anemia, Pappenheimer bodie... |
OMIM:600462 |
Blue Rubber Bleb Nevus |
|
Intestinal bleeding, Skin rash, Microcytic anemia, Gastrointestinal infarctions, Cavernous hemang... |
ORPHA:1059 |
Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
Hyperlysinemia, Type I |
|
Anemia, Hyperlysinemia |
OMIM:238700 |
Thrombocythemia 3 |
|
Thrombocytosis |
OMIM:614521 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
Beta-Thalassemia Major |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Diarrhea, Aniso... |
ORPHA:231214 |
Intrinsic Factor Deficiency |
|
Increased mean corpuscular volume, Megaloblastic anemia, Malabsorption, Absence of intrinsic fact... |
OMIM:261000 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypoproteinemia, In... |
OMIM:267700 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Crohn's disease, Lymphopenia, Hepatomegaly, Splenomegaly, Eczema, Diarrhea, Autoimmune thrombocyt... |
OMIM:616100 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Malabsorption, Hypomagnesemia, Hypokalemia, Hypocalcemia, Xerostomia, Diarrhea, Vomiting, Hematoc... |
OMIM:175500 |
Immunodeficiency 57 With Autoinflammation |
|
Gastritis, Skin rash, Diarrhea, B lymphocytopenia, Inflammation of the large intestine, T lymphoc... |
OMIM:618108 |
Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia |
ORPHA:231393 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Omenn Syndrome |
|
Hypoproteinemia, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, ... |
OMIM:603554 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Lymphoproliferative disorder, B lymphocytopenia, Uveitis, Type I diabetes mellitus, Pneumonia, Pa... |
OMIM:614700 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Malabsorption, Hepatomegaly, Hypoproteinemia, Diarrhea, Vomiting, Iron deficiency anemia, Intesti... |
OMIM:226300 |
Diamond-Blackfan Anemia 13 |
|
Normocytic anemia, Elevated red cell adenosine deaminase level |
OMIM:615909 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercho... |
OMIM:619868 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Increased circulating ferritin concentration, Atopic dermatitis, Diarrhea, Vomiting, Hypochromic ... |
ORPHA:3240 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Colitis, Elevated circulating C-reactive protein concentration, Lymphocytosis,... |
OMIM:301074 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Anisopoikilocytosis, Acantho... |
OMIM:616689 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Protoporphyria, Erythropoietic, X-Linked |
|
Cholelithiasis, Increased erythrocyte protoporphyrin concentration, Iron deficiency anemia |
OMIM:300752 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Hyperbiliru... |
OMIM:613673 |
Immunodeficiency 14B, Autosomal Recessive |
|
Colitis, Neutrophilia, Leukocytosis, Monocytosis, Inflammation of the large intestine, B lymphocy... |
OMIM:619281 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Thrombocythemia 1 |
|
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... |
OMIM:187950 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
Somatostatinoma |
|
Medullary thyroid carcinoma, Constipation, Hepatomegaly, Steatorrhea, Adrenocortical adenoma, Dia... |
ORPHA:97283 |
Majeed Syndrome |
|
Malabsorption, Osteomyelitis, Hepatomegaly, Inflammatory abnormality of the skin, Leukocytosis, C... |
ORPHA:77297 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia, Hypoproteinemia |
OMIM:207731 |
Aceruloplasminemia |
|
Increased circulating ferritin concentration, Abnormal pancreas morphology, Diabetes mellitus, Ac... |
ORPHA:48818 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Sideroblastic anemia, Hypochromic microcytic anemia |
OMIM:301310 |
Immunodeficiency 89 And Autoimmunity |
|
Crohn's disease, Elevated circulating C-reactive protein concentration, Hypochromic microcytic an... |
OMIM:619632 |
Majeed Syndrome |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Osteomyelitis, Inflammatory a... |
OMIM:609628 |
Heme Oxygenase 1 Deficiency |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
OMIM:614034 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Megaloblastic anemia, Absence of intrinsic factor |
OMIM:243320 |
Chromosome 5Q Deletion Syndrome |
|
Anemia of inadequate production, Refractory macrocytic anemia, Myelodysplasia, Erythroid hypoplasia |
OMIM:153550 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Osteomyelitis, Elevated circulating C-reactive protein concentration, Hepatomegaly, Hypochromic m... |
OMIM:619423 |
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... |
OMIM:206000 |
Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... |
ORPHA:3202 |
Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia, Lymphopenia |
OMIM:152800 |
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia |
|
Anemia |
ORPHA:2802 |
Primary Intestinal Lymphangiectasia |
|
Hypomagnesemia, Hypocalcemia, Lymphopenia, Peritoneal effusion, Hypoproteinemia, Increased stool ... |
ORPHA:90362 |
Juvenile Arthritis |
|
Thrombocytosis, Skin rash, Leukocytosis |
OMIM:618795 |
Autosomal Erythropoietic Protoporphyria |
|
Cholelithiasis, Cirrhosis, Eczema, Abnormal circulating porphyrin concentration, Microcytic anemia |
ORPHA:79278 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypoproteinemia, He... |
OMIM:603553 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Hypoproteinemia |
ORPHA:1116 |
Oculocerebral Hypopigmentation Syndrome Of Preus |
|
High palate, High, narrow palate, Hypochromic anemia |
OMIM:257790 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Hepatomegaly, Macroglossia, Elevated circulating creatine kinase concentration, Hypothyroidism, M... |
OMIM:251900 |
Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Reticulocytosis,... |
OMIM:237800 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
OMIM:616050 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
High palate, Elevated circulating C-reactive protein concentration, Elevated circulating amyloid ... |
OMIM:619750 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia, Hyperbilirubinemia |
OMIM:618660 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy |
OMIM:618852 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Prolonged neonatal jaundice, S... |
OMIM:224120 |
Protoporphyria, Erythropoietic, 2 |
|
Iron deficiency anemia |
OMIM:618015 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Iron deficiency anemia, Hepatic fibrosis, Portal ... |
OMIM:616278 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Increased serum pyruvate, Vomiting, Hypochromic microcytic anemia, Hypothyroidism, Hyperalaninemi... |
OMIM:619147 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Bloody diarrhea, Duodenal atresia, Lymphopenia, Enterocolitis, Leukocytosis, Jejunal atresia, Int... |
OMIM:243150 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hypomagnesemia, Leukopenia, Hyponatremia, Hyperuricemia, Anemia, Thrombocytopenia, Diabetes mellitus |
OMIM:613845 |
Primary Myelofibrosis |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hemangioma, Hepatosplenom... |
ORPHA:824 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Chronic gastritis, Colitis, Eczema, Diarrhea, Inflammation of the large intestine, Arthritis, Neu... |
OMIM:608809 |
Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
Alpha-Heavy Chain Disease |
|
Malabsorption, Hypocalcemia, Hepatomegaly, Splenomegaly, Lymphoma, Abnormality of the small intes... |
ORPHA:100025 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Pancreatitis, Microcytic anemia, Hypoalbuminemia, Chronic diarrhea, Hepatic steatosis |
OMIM:618805 |
Autoimmune Lymphoproliferative Syndrome |
|
Abnormal proportion of CD8-positive T cells, Gastritis, Hepatomegaly, Non-Hodgkin lymphoma, Basal... |
ORPHA:3261 |
Trypsinogen Deficiency |
|
Hypoproteinemia |
OMIM:614044 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod... |
OMIM:300908 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Mixed Connective Tissue Disease |
|
Gastroesophageal reflux, Gastritis, Hepatomegaly, Splenomegaly, Skin rash, Leukopenia, Xerostomia... |
ORPHA:809 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Immunodeficiency 43 |
|
Hypoalbuminemia, Hypoproteinemia |
OMIM:241600 |
Isolated Sedoheptulokinase Deficiency |
|
Cholestatic liver disease, Steatorrhea, Cholestasis, Hypochromic microcytic anemia, Hepatitis, Po... |
ORPHA:440713 |
Autoimmune Polyendocrinopathy Type 4 |
|
Thymoma, Celiac disease, Iridocyclitis, Hypergonadotropic hypogonadism, Rheumatoid arthritis, Leu... |
ORPHA:227990 |
Refractory Anemia |
|
Anemia of inadequate production, Single lineage myelodysplasia, Normocytic anemia, Erythroid hypo... |
ORPHA:98826 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Pancreatitis, Primary hyperparathyroidism, Multiple lipomas, Peptic ulcer, Hypercalcemia, Hyperma... |
OMIM:145981 |
Celiac Disease, Susceptibility To, 1 |
|
Hypocalcemia, Steatorrhea, Eczema, Diarrhea, Vomiting, Lymphoma, Macrocytic anemia, Iron deficien... |
OMIM:212750 |
Familial Pseudohyperkalemia |
|
Increased mean corpuscular volume, Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Hy... |
ORPHA:90044 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Myelodysplasia, Pancytopenia, Bone marrow hypocel... |
OMIM:619041 |
Immunodeficiency 82 With Systemic Inflammation |
|
Gastritis, Elevated circulating C-reactive protein concentration, Diarrhea, Vomiting, B lymphocyt... |
OMIM:619381 |
Nk-Cell Enteropathy |
|
Abnormal gastric mucosa morphology, Constipation, Gastroesophageal reflux, Intestinal polyp, Diar... |
ORPHA:263665 |
Autoimmune Polyendocrinopathy Type 3 |
|
Thymoma, Iridocyclitis, Graves disease, Hypergonadotropic hypogonadism, Rheumatoid arthritis, Aut... |
ORPHA:227982 |
Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:265950 |
Leishmaniasis |
|
Splenomegaly, Leukopenia, Abnormal macrophage morphology, Hypoalbuminemia, Pancytopenia, Anemia, ... |
ORPHA:507 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatosplenomegaly, Hypothyroidism, Hypertriglyceridemia, Microcytic anemia, Hypoalbuminemia, Hyp... |
OMIM:619013 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Bloody diarrhea, Ileitis, Gastritis, Pancolitis, Vomiting, Protein-losing enteropathy, Chronic di... |
OMIM:619079 |
Kenny-Caffey Syndrome, Type 1 |
|
Congenital hypoparathyroidism, Anemia, Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
Malaria |
|
Anemia, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia |
ORPHA:673 |
Oculogastrointestinal Muscular Dystrophy |
|
Malabsorption, Abnormal gastric mucosa morphology, Abnormality of the gastrointestinal tract, Spo... |
ORPHA:1876 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Hyperbilirubinemia, Splenomegaly |
OMIM:179700 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
Blue Rubber Bleb Nevus |
|
Abnormality of the liver, Intestinal bleeding, Intussusception, Hemangioma, Iron deficiency anemi... |
OMIM:112200 |
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
|
High palate, Supernumerary nipple, Macroglossia, Reduced alpha/beta synthesis ratio, Hypochromic ... |
OMIM:141750 |
Hypomagnesemia 1, Intestinal |
|
Hypomagnesemia, Hypocalcemia |
OMIM:602014 |
Gitelman Syndrome |
|
Neoplasm of the pancreas, Hypomagnesemia, Hypokalemia, Constipation, Hypocalcemia, Parathyroid ad... |
ORPHA:358 |
Syndromic Diarrhea |
|
Bloody diarrhea, Colitis, Gastritis, Intractable diarrhea, Lymphopenia, Splenomegaly, Hepatoblast... |
ORPHA:84064 |
Congenital Atransferrinemia |
|
Hypothyroidism, Anemia, Abnormality of the pancreas, Arthritis |
ORPHA:1195 |
Dengue Fever |
|
Leukopenia, Thrombocytopenia, Hypoproteinemia |
ORPHA:99828 |
Immunodeficiency 92 |
|
Osteomyelitis, Hepatomegaly, Lymphocytosis, Leukocytosis, Sclerosing cholangitis, B lymphocytopen... |
OMIM:619652 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Hypochromia, Decreased mean corpuscular volume, Anemia, Abnormality of the liver |
OMIM:206100 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Atrophic gastritis, Cleft palate, Stomach cancer |
OMIM:137215 |
Dilated Cardiomyopathy With Ataxia |
|
Microvesicular hepatic steatosis, Hypochromic microcytic anemia, Elevated circulating glutaric ac... |
ORPHA:66634 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypophosphatemia, Pancreatitis, Primary hyperparathyroidism, Multiple lipomas, Peptic ulcer, Hype... |
OMIM:600740 |
Breath-Holding Spells |
|
Iron deficiency anemia |
OMIM:607578 |
Rh Deficiency Syndrome |
|
Hypochromia, Hyperbilirubinemia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anem... |
ORPHA:71275 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hep... |
OMIM:615234 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Multiple myeloma, Elevated circulating C-reactive p... |
ORPHA:158057 |
Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
Pyloric Stenosis, Infantile Hypertrophic, 1 |
|
Projectile vomiting, Pyloric stenosis |
OMIM:179010 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Elevated circulating C-reactive protein concentration, Lymphopenia, Pustule, Skin rash, Leukopeni... |
OMIM:615934 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Colitis, Hemophagocytosis, Splenomegaly, Hepatosple... |
OMIM:613101 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Cholelithiasis, Hypoparathyroidism, Malabsorption, Adrenal insufficiency, Decreased circulating a... |
OMIM:240300 |
Hypomagnesemia 6, Renal |
|
Hypomagnesemia |
OMIM:613882 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased mean corpuscular volume, Anisocytosis, Decreased serum iron, Poikilocytosis, Elliptocyt... |
OMIM:616959 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Hepatocellular Carcinoma |
|
Hepatomegaly, Diarrhea, Esophageal varix, Jaundice, Hyperbilirubinemia, Hyponatremia, Hepatic nec... |
ORPHA:88673 |
Hypomagnesemia 4, Renal |
|
Hypomagnesemia |
OMIM:611718 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated circulating C-reactive protein concentration, Hepatomegaly, Lymphoproliferative disorder... |
OMIM:615688 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Decreased plasma carnitine, Anemia |
OMIM:611283 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Hemophagocytos... |
OMIM:308240 |
Chronic Myeloid Leukemia |
|
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... |
ORPHA:521 |
Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
Uremic Pruritus |
|
Increased blood urea nitrogen, Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia |
ORPHA:94059 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Pancreatitis, Parathyroid adenoma, Hypercalcemia, Hypermagnesemia, Hyperparathyroidism |
OMIM:145980 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hypocalcemia, Hepatomegaly, Hyperbilirubinemia, Leukocytosis, Splenomegaly, Extramedullary hemato... |
OMIM:259720 |
Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Hypothyroidism, Recu... |
OMIM:618849 |
Hemochromatosis, Type 2B |
|
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic fibr... |
OMIM:613313 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Hypomagnesemia |
OMIM:616418 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
ORPHA:158061 |
Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Refractory anemia with ringed sideroblasts, Splenomegaly, Anemia, Thrombocytopenia,... |
OMIM:133180 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis, Anemia, Splenomegaly |
ORPHA:75563 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia |
ORPHA:529799 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hyperbilirubinemia, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Erythroid hyperplasia |
OMIM:301083 |
Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice |
OMIM:312500 |
Vascular Malformation, Primary Intraosseous |
|
Hypochromic anemia |
OMIM:606893 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Duodenal ulcer, Iron deficiency anemia, Impaired platelet aggregation, Decreased serum thromboxan... |
OMIM:618372 |
Acatalasemia |
|
Type II diabetes mellitus, Severe periodontitis, Microcytic anemia, Type I diabetes mellitus, Neo... |
ORPHA:926 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Dermatitis Herpetiformis |
|
Malabsorption, Microcytic anemia, Eczema |
ORPHA:1656 |
Eosinophilic Gastroenteritis |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Hypoalbuminemi... |
ORPHA:2070 |
Aicardi-Goutieres Syndrome 7 |
|
Increased circulating ferritin concentration, Hepatomegaly, Diarrhea, Hematochezia, Pneumonia, Pa... |
OMIM:615846 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hepatomegaly, Conjunctivitis, Hemophagocytosis, Spl... |
OMIM:603552 |
Refractory Anemia With Excess Blasts |
|
Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Abnormal circula... |
ORPHA:86839 |
Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... |
OMIM:610629 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Reticulocytosis, Anemia |
OMIM:613977 |
Pulmonary Hemosiderosis |
|
Iron deficiency anemia |
OMIM:178550 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
High palate, Hypophosphatemic rickets, Hypomagnesemia, Constipation, Hypophosphatemia, Elevated c... |
OMIM:619743 |
Immunodeficiency 87 And Autoimmunity |
|
Elevated circulating C-reactive protein concentration, Hepatomegaly, Cleft palate, Cervical lymph... |
OMIM:619573 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... |
OMIM:603909 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia |
ORPHA:88643 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... |
OMIM:601859 |
Hepatoportal Sclerosis |
|
Hyperbilirubinemia, Splenomegaly, Leukopenia, Hypoalbuminemia, Anemia, Thrombocytopenia, Hyperspl... |
ORPHA:64743 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice |
OMIM:224100 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Type I diabetes mellitus... |
OMIM:620044 |
Megaloblastic Anemia, Folate-Responsive |
|
Increased circulating ferritin concentration, Episodic hemolytic anemia, Hyperbilirubinemia, Schi... |
OMIM:601775 |
Nephrotic Syndrome, Type 1 |
|
Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia |
OMIM:256300 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Splenomegaly, Hypochromic microcytic anemia, Schistocytosis, B lymphocytopenia, Sideroblastic anemia |
OMIM:616084 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Hypoalbuminemia, Increased LDL cholesterol concen... |
OMIM:616000 |
Folate Malabsorption, Hereditary |
|
Malabsorption, Leukopenia, Diarrhea, Neutropenia, Thrombocytopenia, Folate-responsive megaloblast... |
OMIM:229050 |
Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Lymphopenia, Hypogonadotropic hypogonadism, Cirrhos... |
OMIM:604250 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:2239 |
Monosomy 22 |
|
High palate, Aplasia of the thymus, Hepatosplenomegaly, Hypochromic microcytic anemia, Sarcoma, S... |
ORPHA:96123 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Nonspherocytic hemolytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Normocytic ane... |
OMIM:235700 |
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Microcytic anemia, Hypochromic anemia |
OMIM:618451 |
Acute Monoblastic/Monocytic Leukemia |
|
Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopat... |
ORPHA:514 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Hypertriglyceridemia, Anemia |
OMIM:608898 |
Mitochondrial Dna Depletion Syndrome 18 |
|
Microcytic anemia |
OMIM:618811 |
Rhabdoid Tumor |
|
Neoplasm of the liver, Renal neoplasm, Neoplasm of the central nervous system, Hypercalcemia, Ane... |
ORPHA:69077 |
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Gastroesophageal reflux, Constipation, Macroglossia, Reduced alpha/beta synthesis ratio, Hypochro... |
OMIM:301040 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Bloody diarrhea, Intestinal bleeding, Uterine neoplasm, Multiple gastri... |
OMIM:175200 |
Cap Polyposis |
|
Constipation, Diarrhea, Hematochezia, Colorectal polyposis, Atrophic gastritis |
ORPHA:160148 |
Hemochromatosis, Type 4 |
|
Increased circulating ferritin concentration, Hepatomegaly, Cirrhosis, Osteoarthritis, Diabetes m... |
OMIM:606069 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly,... |
ORPHA:231222 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Cryptorchidism, Microcytic anemia, High palate |
ORPHA:98791 |
Hereditary Fructose Intolerance |
|
Hypophosphatemia, Constipation, Hepatomegaly, Diarrhea, Vomiting, Nausea, Hyperuricemia, Hypermag... |
ORPHA:469 |
Niemann-Pick Disease, Type A |
|
Sea-blue histiocytosis, Constipation, Hepatomegaly, Splenomegaly, Vomiting, Microcytic anemia, Pr... |
OMIM:257200 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Anemia of inadequate production, Exocrine pancreatic insufficiency, Hepatomegaly, Skin rash, Sple... |
OMIM:612714 |
Barth Syndrome |
|
Cyclic neutropenia, Granulocytopenia, Hypochromic microcytic anemia, Neutropenia |
OMIM:302060 |
Familial Hypocalciuric Hypercalcemia |
|
Lipoma, Pancreatitis, Renal hypophosphatemia, Peptic ulcer, Hypercalcemia, Hypermagnesemia, Infan... |
ORPHA:405 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia |
OMIM:601198 |
Zygomycosis |
|
Melena, Gastritis, Unusual gastrointestinal infection, Pancreatitis, Diarrhea, Vomiting, Acute in... |
ORPHA:73263 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Hyperammonemia, Cirrhosis, Intraalveolar phospholipid accumulation, Vomiting, Chole... |
OMIM:615486 |
Erythrocytosis, Familial, 4 |
|
Polycythemia, Elevated circulating erythropoietin concentration, Increased hemoglobin, Increased ... |
OMIM:611783 |
Autoerythrocyte Sensitization Syndrome |
|
Impaired platelet adhesion, Diarrhea, Autoimmune thrombocytopenia, Vomiting, Thrombocytosis, Naus... |
ORPHA:324636 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Anemia, Thrombocytopenia, Hypoalbuminemia |
OMIM:608104 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hemolytic anemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Normochromic anemia |
OMIM:245900 |
Glutamate Formiminotransferase Deficiency |
|
Megaloblastic anemia, Positive ferric chloride test, Hypersegmentation of neutrophil nuclei |
OMIM:229100 |
Isolated Agammaglobulinemia |
|
Malabsorption, Sinusitis, Skin rash, Otitis media, Diarrhea, Abnormality of the lymphatic system,... |
ORPHA:229717 |
Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, Hypoalbuminemia |
OMIM:246700 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decr... |
OMIM:607616 |
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
|
Fundic gland polyposis, Melena, Gastric adenocarcinoma |
OMIM:619182 |
Spherocytosis, Type 4 |
|
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:612653 |
Trimethylaminuria |
|
Anemia, Neutropenia, Recurrent pneumonia, Splenomegaly |
OMIM:602079 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... |
OMIM:615285 |
Erythrocytosis, Familial, 5 |
|
Polycythemia, Elevated circulating erythropoietin concentration, Increased hemoglobin, Increased ... |
OMIM:617907 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hypocalcemia, Hypophosphatemia, Iron deficiency anemia |
ORPHA:89937 |
Spherocytosis, Type 2 |
|
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis |
OMIM:616649 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto... |
OMIM:159550 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Decreased transf... |
ORPHA:300298 |
Chronic Intestinal Pseudoobstruction |
|
Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis |
ORPHA:2978 |
Johanson-Blizzard Syndrome |
|
Anemia, Hypoproteinemia |
ORPHA:2315 |
Brucellosis |
|
Elevated circulating C-reactive protein concentration, Hepatomegaly, Vomiting, Myocarditis, Epidi... |
ORPHA:1304 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Dysphagia, Eczema, Microcytic anemia |
OMIM:612379 |
Congenital Disorder Of Glycosylation, Type Ii |
|
High palate, Gastroesophageal reflux, Hepatomegaly, Diarrhea, Iron deficiency anemia, Hypothyroidism |
OMIM:607906 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Gastric hypertrophy, Gastric ulcer |
OMIM:161700 |
3-Methylglutaconic Aciduria, Type V |
|
Normochromic microcytic anemia, Cryptorchidism, Microvesicular hepatic steatosis, Decreased testi... |
OMIM:610198 |
Reticular Dysgenesis |
|
Malabsorption, Skin rash, Leukopenia, Diarrhea, Chronic otitis media, Abnormality of neutrophils,... |
ORPHA:33355 |
Nephronophthisis |
|
Anemia |
ORPHA:655 |
Helix Syndrome |
|
Hyperparathyroidism, Xerostomia, Hypermagnesemia, Hypokalemia |
OMIM:617671 |
Juvenile Polyposis Syndrome |
|
Hypokalemia, Multiple gastric polyps, Intussusception, Duodenal adenocarcinoma, Diarrhea, Hematoc... |
OMIM:174900 |
Fanconi Anemia, Complementation Group G |
|
Myelodysplasia, Neutropenia, Anemia, Thrombocytopenia, Leukemia |
OMIM:614082 |
Eosinophilia, Familial |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
OMIM:131400 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hypoproteinemia, Leukocytosis, Splenomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:615895 |
Mitochondrial Dna Depletion Syndrome 19 |
|
Hydrocele testis, Microcytic anemia |
OMIM:618972 |
Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
Congenital Enterovirus Infection |
|
Leukocytosis, Hyperammonemia, Leukopenia, Abnormal macrophage morphology, Hypoalbuminemia, Neutro... |
ORPHA:292 |
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation |
|
Megaloblastic anemia, Exocrine pancreatic insufficiency, Gastritis, Meconium ileus, Diarrhea, Bil... |
OMIM:219721 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit |
OMIM:609820 |
Srd5A3-Cdg |
|
Hypothyroidism, Microcytic anemia, Decreased response to growth hormone stimulation test |
ORPHA:324737 |
Elliptocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Elliptocytosis, Neonatal hyperbilirubinemia |
OMIM:130600 |
Congenital Analbuminemia |
|
Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia |
ORPHA:86816 |
Pearson Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Median cleft lip and palate, Hypopl... |
ORPHA:699 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Hypomagnesemia, Episodic hypokalemia |
ORPHA:564178 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Thymoma, Exocrine pancreatic insufficiency, Type II diabetes mellitus, Hyperthyroidism, Steatorrh... |
OMIM:269200 |
Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
Wolcott-Rallison Syndrome |
|
Hyperbilirubinemia, Lymphocytosis, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Hypon... |
ORPHA:1667 |
Blackfan-Diamond Anemia |
|
Increased mean corpuscular volume, Malignant genitourinary tract tumor, High palate, Neutropenia,... |
ORPHA:124 |
Orotic Aciduria |
|
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Poikilocytosis, Pyrimidine-r... |
OMIM:258900 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
Acute Erythroid Leukemia |
|
Leukopenia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity, Anemia, Refractory a... |
ORPHA:318 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Hemangioma, Microcytic anemia, Hepatomegaly |
ORPHA:90308 |
Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Increased circulating ferritin concentration, Neutropenia, Vacuola... |
ORPHA:167 |
Hemangioma-Thrombocytopenia Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia, Hyperkalemia |
OMIM:141000 |
Neuroleptic Malignant Syndrome |
|
Hypomagnesemia, Hypocalcemia, Leukocytosis, Aspiration pneumonia, Elevated circulating creatine k... |
ORPHA:94093 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
Lymphoproliferative Syndrome 1 |
|
Increased circulating ferritin concentration, Hodgkin lymphoma, B-cell lymphoma, Elevated circula... |
OMIM:613011 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Bloody diarrhea, Leukocytosis, Eosinophilic infiltration of the esophagus, Pancolitis, Hypochromi... |
OMIM:618213 |
Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Neutropenia, Abnormal T cell subset distribution, H... |
ORPHA:158048 |
Wt Limb-Blood Syndrome |
|
Hypoplastic anemia, Pancytopenia, Cryptorchidism, Thrombocytopenia, Leukemia |
OMIM:194350 |
Erythrocytosis, Familial, 8 |
|
Nonspherocytic hemolytic anemia, Cholelithiasis, Splenomegaly, Polycythemia, Normocytic anemia, C... |
OMIM:222800 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoalbuminemia |
OMIM:617156 |
X-Linked Agammaglobulinemia |
|
Neoplasm, Malabsorption, Hypocalcemia, Osteomyelitis, Sinusitis, Skin rash, Glossoptosis, Abnorma... |
ORPHA:47 |
Poems Syndrome |
|
Abnormality of the endocrine system, Polycythemia, Hemangioma, Lymphoproliferative disorder, Incr... |
ORPHA:2905 |
Trichohepatoenteric Syndrome 1 |
|
Intractable diarrhea, Hepatomegaly, Splenomegaly, Cirrhosis, Bifid uvula, Cholestasis, Abnormalit... |
OMIM:222470 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Hemangiomatosis, Hypercalcemia, Anemia, Thrombocytopenia, Visceral angiomatosis |
ORPHA:2123 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Splenomegaly, Hypocholesterolemia, Anemia, Thrombocytopenia, Hypersplenism |
OMIM:610539 |
Formiminoglutamic Aciduria |
|
Megaloblastic anemia, Anemia, Abnormal circulating histidine concentration |
ORPHA:51208 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, H... |
ORPHA:247585 |
Erythrocytosis, Familial, 6 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:617980 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypermethioninemia, Abnormal circulating arginine concentration, Abnormal circulating glutamine c... |
ORPHA:247598 |
Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
Colchicine Poisoning |
|
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Leukocytosis, Diarrhea, Vomiting, My... |
ORPHA:31824 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hyperparathyroidism, Anemia, Hypercalcemia |
ORPHA:2668 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Thrombocytopenia, Hypoalbuminemia, Hyperbilirubinemia, Splenomegaly |
OMIM:251880 |
Dubin-Johnson Syndrome |
|
Abnormal gastric mucosa morphology |
ORPHA:234 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
Idiopathic Hypereosinophilic Syndrome |
|
Pancreatitis, Neutrophilia, Cervical lymphadenopathy, Eczema, Vomiting, Erythroderma, Portal fibr... |
ORPHA:3260 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno... |
ORPHA:2585 |
Serrated Polyposis Syndrome |
|
Adenomatous colonic polyposis, Ovarian neoplasm, Neoplasm of the large intestine, Colorectal poly... |
ORPHA:157798 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Megaloblastic anemia, Thrombocytopenia, Decreased testicular size |
OMIM:601815 |
Duodenal Neuroendocrine Tumor |
|
Melena, Elevated circulating growth hormone concentration, Hematemesis, Increased hematocrit, Glu... |
ORPHA:100076 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... |
ORPHA:540 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased mean corpuscular volume, Hepatocellular necrosis, Hepatomegaly, Microvesicular hepatic ... |
OMIM:618278 |
Congenital Erythropoietic Porphyria |
|
Recurrent bacterial skin infections, Splenomegaly, Anisocytosis, Leukopenia, Neoplasm of the skin... |
ORPHA:79277 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Anisocytosis, Hepatomegaly |
OMIM:604273 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Neoplasm, Gastroesophageal reflux, Decreased serum testosterone concent... |
ORPHA:2959 |
Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
Liver Disease, Severe Congenital |
|
Hydrocele testis, Chronic gastritis, Exocrine pancreatic insufficiency, Increased circulating fer... |
OMIM:619991 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Hypothyroidism, Cryptorchidism, Hypomagnesemia, Hypothalamic hamartoma |
OMIM:619908 |
Solute carrier family 4 (anion exchanger), member 1 |
|
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis... |
OMIM:109270 |
Aceruloplasminemia |
|
Increased circulating ferritin concentration, Aceruloplasminemia, Decreased serum iron, Diabetes ... |
OMIM:604290 |
Wiskott-Aldrich Syndrome |
|
Keratitis, Otitis media, Eczema, Hematochezia, Blepharitis, Conjunctivitis, Inflammation of the l... |
ORPHA:906 |
Overhydrated Hereditary Stomatocytosis |
|
Hyperbilirubinemia, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185000 |
Shwachman-Diamond Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Eczema, Aplastic anemia, Macrocytic... |
ORPHA:811 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Steatorrhea, Hypergonadotropic hypogonadism, Diarrhea, Vomiting, Hypothyroidism, Th... |
OMIM:212065 |
Wolfram Syndrome, Mitochondrial Form |
|
Megaloblastic anemia, Sideroblastic anemia, Neutropenia, Diabetes mellitus, Thrombocytopenia, Dia... |
OMIM:598500 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Lipid accumulation in hepatocytes, Hepatomegaly, Leukocytosis, Hyperammonemia, Leukopenia, Diarrh... |
ORPHA:20 |
Spherocytosis, Type 1 |
|
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:182900 |
Neuroendocrine Tumor Of Stomach |
|
Melena, Bloody diarrhea, Atypical pulmonary carcinoid tumor, Increased serum serotonin, Hematemes... |
ORPHA:100075 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypomagnesemia, Hypokalemia |
OMIM:618314 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Rheumatoid arthritis, Epididymitis, Chronic sinusitis, Pneumonia, Recurrent to... |
ORPHA:183675 |
Cogan Syndrome |
|
Keratitis, Leukocytosis, Thrombocytosis, Uveitis, Anemia, Episcleritis, Conjunctivitis, Inflammat... |
ORPHA:1467 |
Erythrocytosis, Familial, 7 |
|
Polycythemia, Increased hematocrit |
OMIM:617981 |
Bone Marrow Failure Syndrome 5 |
|
Anemia, Testicular atrophy, Pure red cell aplasia, Hypogonadism |
OMIM:618165 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia, T lymphocytopenia |
DECIPHER:16 |
Colorectal Cancer |
|
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach |
OMIM:114500 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Constipation, Decreased HDL cholesterol concentration, Decreased serum creatinine, Iron deficienc... |
OMIM:618885 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit, Splenomegaly |
OMIM:133100 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypocalcemia, Hypoproteinemia, Splenomegaly |
OMIM:235255 |
Acquired Von Willebrand Syndrome |
|
Melena, Hypochromic anemia, Normocytic anemia, Hematological neoplasm, Refractory anemia, Gastroi... |
ORPHA:99147 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the rectum, Stomach cancer, Neoplasm of the small intestine, Vomiting, Rectal prolaps... |
ORPHA:2869 |
Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Cleft palate, Persistence of hemoglobin F, Bifid uvula, Macroc... |
OMIM:612561 |
Bone Marrow Failure Syndrome 2 |
|
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia |
OMIM:615715 |
H Syndrome |
|
Histiocytosis, Bronchiectasis, Malabsorption, Hepatosplenomegaly, Chronic rhinitis, Hypertriglyce... |
ORPHA:168569 |
Acute Myelomonocytic Leukemia |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
ORPHA:517 |
Solitary Rectal Ulcer Syndrome |
|
Bloody mucoid diarrhea, Bloody diarrhea, Stercoral ulcer, Hematochezia, Intermittent diarrhea, Re... |
ORPHA:209964 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia |
ORPHA:169079 |
Immunodeficiency 46 |
|
Chronic oral candidiasis, Intermittent thrombocytopenia, Chronic diarrhea, Neutropenia, Anemia, C... |
OMIM:616740 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Gastroesophageal reflux, Diabetes mellitus, Cryptorchidism, Thrombocytopeni... |
OMIM:249270 |
Vexas Syndrome |
|
Chondritis of pinna, Inflammatory abnormality of the skin, Elevated circulating C-reactive protei... |
OMIM:301054 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Abnormality of the lymph nod... |
ORPHA:54251 |
Hb Bart'S Hydrops Fetalis |
|
Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pericarditis, Anemia |
ORPHA:163596 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Hypoproteinemia |
OMIM:608093 |
Ollier Disease |
|
Chondrosarcoma, Neoplasm, Lymphangioma, Precocious puberty, Hemangioma, Multiple enchondromatosis... |
ORPHA:296 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Pancreatitis, Hepatomegaly, Hyperammonemia, Leukopenia, Macrocytic anemia, Anemia, Thrombocytopenia |
ORPHA:27 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Ileus, Coombs-positive hemolytic anemia, Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glome... |
OMIM:304790 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Leukocytosis, Hyperammonemia, Diarrhea, Vomiting, Thrombocytosis, Hyperuricemia |
ORPHA:134 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils, Osteosarcoma |
ORPHA:2760 |
Gastrointestinal Stromal Tumor |
|
Neoplasm of the colon, Neoplasm of the rectum, Esophageal neoplasm, Constipation, Skin rash, Gast... |
ORPHA:44890 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Constipation, Macroglossia, Impaired sensitivity to thyroid hormone, Congenital hypothyroidism, I... |
OMIM:614450 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Hepatosplenomegaly |
OMIM:273680 |
Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
Nephrotic Syndrome, Type 14 |
|
Hypertriglyceridemia, Lymphopenia, Hypoalbuminemia |
OMIM:617575 |
Familial Benign Copper Deficiency |
|
Anemia, Decreased circulating copper concentration, Acne |
ORPHA:1551 |
Vipoma |
|
Hepatomegaly, Benign gastrointestinal tract tumors, Adrenocortical adenoma, Increased circulating... |
ORPHA:97282 |
Diamond-Blackfan Anemia 9 |
|
Anemia |
OMIM:613308 |
Jervell And Lange-Nielsen Syndrome |
|
Iron deficiency anemia |
ORPHA:90647 |
Ileal Neuroendocrine Tumor |
|
Increased serum serotonin, Extrahepatic cholestasis, Episodic vomiting, Iron deficiency anemia, I... |
ORPHA:100078 |
Jejunal Neuroendocrine Tumor |
|
Increased serum serotonin, Extrahepatic cholestasis, Episodic vomiting, Iron deficiency anemia, I... |
ORPHA:100077 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypocalcemia, Hypoproteinemia, Hyperammonemia, Elevated circulating creatine kinase concentration... |
ORPHA:26793 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Leukopenia, Monocytosis, Eczema, Lymphoma, Myelodysplasia, Bone marrow hypocellularity, Refractor... |
OMIM:616871 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Steatorrhea, Diarrhea, Vomiting, Hepatic bridging fibrosis, Esophageal varix, Adren... |
OMIM:278000 |
Glycogen Storage Disease Vii |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia, Increased total bilir... |
OMIM:232800 |
Bleeding Disorder, Platelet-Type, 16 |
|
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... |
OMIM:187800 |
Erythrocytosis, Familial, 2 |
|
Elevated circulating erythropoietin concentration, Increased hematocrit, Hemangioma, Increased re... |
OMIM:263400 |
Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Macrothrombocytopenia |
OMIM:616176 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Colitis, Lymphopenia, Skin rash, Anterior uveitis, Hemolytic anemia, Ileal ulcer, Thrombocytopenia |
OMIM:616744 |
Diamond-Blackfan Anemia 16 |
|
Anemia |
OMIM:617408 |
Lesch-Nyhan Syndrome |
|
Anemia, Gout, Hyperuricemia |
ORPHA:510 |
Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
Fanconi Anemia, Complementation Group T |
|
Bone marrow hypocellularity, Anemia, Thrombocytopenia, Pancytopenia |
OMIM:616435 |
Alg6-Cdg |
|
Decreased LDL cholesterol concentration, Hypoalbuminemia |
ORPHA:79320 |
Iron Overload In Africa |
|
Elevated transferrin saturation |
OMIM:601195 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Increased serum pyruvate, Increased serum iron |
OMIM:603358 |
Thymoma |
|
Neoplasm, Rheumatoid arthritis, Aplastic anemia, Non-Hodgkin lymphoma, Neoplasm of the gastrointe... |
ORPHA:99867 |
Amoebiasis Due To Entamoeba Histolytica |
|
Anemia, Hypoalbuminemia, Leukocytosis |
ORPHA:67 |
Fetal Parvovirus Syndrome |
|
Anemia, Thrombocytopenia |
ORPHA:295 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
High palate, Anemia, Delayed puberty |
ORPHA:2598 |
Copper Deficiency, Familial Benign |
|
Anemia, Decreased circulating copper concentration, Seborrheic dermatitis |
OMIM:121270 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Ileus, Ovarian neoplasm, Hepatomegaly, Neoplasm of the central nervous ... |
ORPHA:83469 |
Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly |
ORPHA:1802 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal proportion of CD8-positive T cells, Chronic oral candidiasis, Abnormal B cell count, Dec... |
OMIM:212050 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypomagnesemia, Hypocalcemia, Hematochezia, Hypothyroidism, Hypertriglyceridemia, Protein-losing ... |
OMIM:618183 |
Wolman Disease |
|
Adrenal insufficiency, Hepatomegaly, Splenomegaly, Steatorrhea, Adrenal calcification, Esophageal... |
ORPHA:75233 |
Avian Influenza |
|
Elevated circulating C-reactive protein concentration, Lymphopenia, Leukopenia, Elevated circulat... |
ORPHA:454836 |
Rh-Null, Regulator Type |
|
Hemolytic anemia, Unconjugated hyperbilirubinemia, Stomatocytosis |
OMIM:268150 |
Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Neutropenia, Constipation, Anisopoikilocytosis, Vomiting, Macrocytic anemia... |
ORPHA:35858 |
Leukocyte Adhesion Deficiency |
|
Otitis media, Severe periodontitis, Impaired platelet aggregation, Pneumonia, Bone marrow hypocel... |
ORPHA:2968 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Diamond-Blackfan Anemia 1 |
|
High palate, Cleft palate, Congenital hypoplastic anemia, Thrombocytosis, Osteosarcoma, Myelodysp... |
OMIM:105650 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Sinusitis, Lymphopenia, Otitis media, Eczema, Diarrhea, Absent microvilli on the surface of perip... |
OMIM:600903 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatosplenomegaly, Hypocalcemia, Hypoproteinemia, Splenomegaly |
ORPHA:1655 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Splenomegaly, Decreased hemoglobin concentration, Chronic hemolytic anemia, Unconjugated hyperbil... |
OMIM:266200 |
Hypomagnesemia 2, Renal |
|
Hypomagnesemia, Hypokalemia |
OMIM:154020 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Anemia, Hyperuricemia |
ORPHA:371 |
Cronkhite-Canada Syndrome |
|
Neoplasm, Malabsorption, Hepatomegaly, Stomach cancer, Splenomegaly, Diarrhea, Furrowed tongue, I... |
ORPHA:2930 |
Familial Thrombocytosis |
|
Chronic myelogenous leukemia, Splenomegaly, Myelodysplasia, Thrombocytosis, Acute myeloid leukemia |
ORPHA:71493 |
Diamond-Blackfan Anemia 12 |
|
Elevated red cell adenosine deaminase level, Normochromic anemia, Reticulocytopenia, Macrocytic a... |
OMIM:615550 |
Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia |
OMIM:618347 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:612138 |
Cinca Syndrome |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Skin rash, Eosinophilia, Hep... |
OMIM:607115 |
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia |
OMIM:250940 |
Harderoporphyria |
|
Increased circulating ferritin concentration, Splenomegaly, Hemolytic anemia, Neonatal hyperbilir... |
OMIM:618892 |
Glycogen Storage Disease Xii |
|
Nonspherocytic hemolytic anemia, Cholelithiasis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, ... |
OMIM:611881 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Hypogonadotropic hypogonadism, Bifid uvula, Microcytic anemia, Insulin-resistant diabetes mellitu... |
ORPHA:293967 |
Pancreatic Colipase Deficiency |
|
Cholelithiasis, Megaloblastic anemia, Exocrine pancreatic insufficiency, Steatorrhea, Fat malabso... |
ORPHA:309108 |
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Multiple myeloma, Hepatomegaly, Neutrophilia, Diarrhea, Lymphadenopathy, Abnormal mast cell morph... |
ORPHA:98849 |
Transaldolase Deficiency |
|
|