HEMATOLOGY

Associated diseases: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, MANNOSIDOSIS, ALPHA-, TYPES I AND II, SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, BARTTER SYNDROME, TYPE 2, AICARDI-GOUTIERES SYNDROME 7, {THIOPURINES, POOR METABOLISM OF, 1}, ?NEUTROPHILIA, HEREDITARY, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, DIAMOND-BLACKFAN ANEMIA 4, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, [BLOOD GROUP, VEL SYSTEM], [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, SICKLE CELL ANEMIA, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, PORENCEPHALY 1, MEDULLARY CYSTIC KIDNEY DISEASE 1, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, ERYTHROCYTOSIS DUE TO BISPHOSPHOGLYCERATE MUTASE DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE), IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, VON WILLEBRAND DISEASE, TYPE 1, INCONTINENTIA PIGMENTI, SECKEL SYNDROME 1, CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS, THROMBOCYTOPENIA 2, ?THROMBOCYTOPENIA-2, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, SPHEROCYTOSIS, TYPE 4, TRIMETHYLAMINURIA, ?GLYCOPROTEIN IA DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, ANEMIA, HEMOLYTIC, RH-NULL, REGULATOR TYPE, ATRANSFERRINEMIA, PAROXYSMAL NOCTURNAL HEMOGLOBINURIA, SOMATIC, CYANOSIS, TRANSIENT NEONATAL, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], IRON-REFRACTORY IRON DEFICIENCY ANEMIA, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 6, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, EMBERGER SYNDROME, PELGER-HUET ANOMALY, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, NOONAN SYNDROME 4, HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA, CEREBELLAR ATAXIA, [HYPOCERULOPLASMINEMIA, HEREDITARY], FANCONI ANEMIA, COMPLEMENTATION GROUP D1, GHOSAL HEMATODIAPHYSEAL SYNDROME, GLYCOGEN STORAGE DISEASE IA, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, ELLIPTOCYTOSIS-2, HEMOCHROMATOSIS, TYPE 4, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, IMMUNODEFICIENCY, COMMON VARIABLE, 13, GLYCOGEN STORAGE DISEASE IC, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, HYPER-IGD SYNDROME, HYPERMANGANESEMIA WITH DYSTONIA, POLYCYTHEMIA, AND CIRRHOSIS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, TYROSINEMIA, TYPE I, SCOTT SYNDROME, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, ASPARTYLGLUCOSAMINURIA, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, THROMBOCYTHEMIA 2, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, GLANZMANN THROMBASTHENIA, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, LEUKEMIA, CHRONIC MYELOID, SOMATIC, ANEMIA, SIDEROBLASTIC, WITH ATAXIA, CARTILAGE-HAIR HYPOPLASIA, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), QUEBEC PLATELET DISORDER, THROMBOTIC THROMBOCYTOPENIC PURPURA, FAMILIAL, LIVER FAILURE, TRANSIENT INFANTILE, ANEMIA, SIDEROBLASTIC, 1, THROMBOCYTOPENIA, CONGENITAL AMEGAKARYOCYTIC, DIAMOND-BLACKFAN ANEMIA 3, NETHERTON SYNDROME, CHEDIAK-HIGASHI SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, HETEROTOPIA, PERIVENTRICULAR, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS, ANEMIA, SIDEROBLASTIC, 4, GAUCHER DISEASE, PERINATAL LETHAL, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, DIAMOND-BLACKFAN ANEMIA 13, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE, FACTOR XIIIB DEFICIENCY, BONE MARROW FAILURE SYNDROME 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, ?HEMOCHROMATOSIS, TYPE 5, NIJMEGEN BREAKAGE SYNDROME, COMBINED FACTOR V AND VIII DEFICIENCY, PORPHYRIA, ACUTE HEPATIC, {LEAD POISONING, SUSCEPTIBILITY TO}, [AMP DEAMINASE DEFICIENCY, ERYTHROCYTIC], STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, [HEMOGLOBIN, HIGH ALTITUDE ADAPTATION], ANEMIA, HEMOLYTIC, DUE TO UMPH1 DEFICIENCY, SPHEROCYTOSIS, TYPE 1, HYPOPHOSPHATASIA, INFANTILE, STORMORKEN SYNDROME, PROPIONICACIDEMIA, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, ACUTE MYELOID LEUKEMIA, M6 TYPE, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY, FOLATE MALABSORPTION, HEREDITARY, PANCREATIC AND CEREBELLAR AGENESIS, DIAMOND-BLACKFAN ANEMIA 8, HEMOCHROMATOSIS, TYPE 2B, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DYSKERATOSIS CONGENITA, X-LINKED, KENNY-CAFFEY SYNDROME, TYPE 1, NOONAN SYNDROME 9, PRIMARY PULMONARY HYPERTENSION, OVERHYDRATED HEREDITARY STOMATOCYTOSIS, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, HEMOLYTIC ANEMIA DUE TO ADENYLATE KINASE DEFICIENCY, RHEUMATOID ARTHRITIS, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, GAUCHER DISEASE, TYPE IIIC, SEBASTIAN SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, BLEEDING DISORDER DUE TO P2RX1 DEFECT, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 8, MYELOPEROXIDASE DEFICIENCY, HARP SYNDROME, HERMANSKY-PUDLAK SYNDROME 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIL, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, GAUCHER DISEASE, TYPE I, FANCONI ANEMIA, COMPLEMENTATION GROUP C, RETICULAR DYSGENESIS, NEPHRONOPHTHISIS 1, JUVENILE, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, SHWACHMAN-DIAMOND SYNDROME, ROIFMAN SYNDROME, ?INFANTILE LIVER FAILURE SYNDROME 1, PROLIDASE DEFICIENCY, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, TRICHOHEPATOENTERIC SYNDROME 1, OVALOCYTOSIS, SA TYPE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, PEROXISOME BIOGENESIS DISORDER 3B, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, NOONAN SYNDROME 10, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IC, ?DIAMOND-BLACKFAN ANEMIA 12, RENAL TUBULAR ACIDOSIS, DISTAL, AR, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, IMMUNODEFICIENCY 23, EPSTEIN SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, GLYCOGEN STORAGE DISEASE VII, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA, NEPHROTIC SYNDROME, TYPE 7, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7}, ERYTHROCYTOSIS, FAMILIAL, 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, CEROID LIPOFUSCINOSIS, NEURONAL, 3, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2, LESCH-NYHAN SYNDROME, HYPOBETALIPOPROTEINEMIA, AICARDI-GOUTIERES SYNDROME 6, NEPHRONOPHTHISIS 11, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, ERYTHROCYTOSIS, FAMILIAL, 3, FACTOR XIIIA DEFICIENCY, GRAY PLATELET SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY, METHYLMALONIC ACIDURIA, MUT(0) TYPE, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, SEA-BLUE HISTIOCYTE DISEASE, {CELIAC DISEASE, SUSCEPTIBILITY TO}, DIAMOND-BLACKFAN ANEMIA 1, GAUCHER DISEASE, TYPE II, HEMOCHROMATOSIS, TYPE 3, IMMUNODEFICIENCY 10, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, HERMANSKY-PUDLAK SYNDROME 7, MCLEOD SYNDROME WITH OR WITHOUT CHRONIC GRANULOMATOUS DISEASE, REVESZ SYNDROME, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, CAMURATI-ENGELMANN DISEASE, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, DIAMOND-BLACKFAN ANEMIA 5, FAVISM, WILSON DISEASE, SENIOR-LOKEN SYNDROME 4, ?DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY, FANCONI ANEMIA, COMPLEMENTATION GROUP E, FECHTNER SYNDROME, ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE, FACTOR XII DEFICIENCY, GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY, FACTOR V DEFICIENCY, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIO, OROTIC ACIDURIA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEVALONIC ACIDURIA, SITOSTEROLEMIA, NORUM DISEASE, GLUTATHIONE SYNTHETASE DEFICIENCY, NIEMANN-PICK DISEASE TYPE C1, FANCONI ANEMIA, COMPLEMENTATION GROUP P, ?LYSOSOMAL ACID PHOSPHATASE DEFICIENCY, GREENBERG SKELETAL DYSPLASIA, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, TRANSCOBALAMIN II DEFICIENCY, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, PORPHYRIA, CONGENITAL ERYTHROPOIETIC, ?THROMBOXANE SYNTHASE DEFICIENCY, BARTH SYNDROME, DIAMOND-BLACKFAN ANEMIA 6, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, CATARACT 13 WITH ADULT I PHENOTYPE, DIAMOND-BLACKFAN ANEMIA 9, YUNIS-VARON SYNDROME, OSTEOPETROSIS, AUTOSOMAL DOMINANT 2, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, [BOMBAY PHENOTYPE], ?DIAMOND-BLACKFAN ANEMIA 11, DIAMOND-BLACKFAN ANEMIA 10, FACTOR VII DEFICIENCY, EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME, POLYCYTHEMIA VERA, SOMATIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, WOLFRAM SYNDROME 2, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IB, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3, COHEN SYNDROME, ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, METHYLMALONIC ACIDURIA CBLB TYPE, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE PEROXIDASE DEFICIENCY, CRYOHYDROCYTOSIS, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, HEMOPHILIA B, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, PEUTZ-JEGHERS SYNDROME, WISKOTT-ALDRICH SYNDROME, THROMBOCYTOPENIC PURPURA, AUTOIMMUNE, NIEMANN-PICK DISEASE, TYPE B, INTRINSIC FACTOR DEFICIENCY, ADULT I PHENOTYPE WITHOUT CATARACT, [BLOOD GROUP, II], MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, THROMBOPHILIA DUE TO HRG DEFICIENCY, THROMBOPHILIA DUE TO ELEVATED HRG, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, COENZYME Q10 DEFICIENCY, PRIMARY, 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, CITRULLINEMIA, TYPE II, NEONATAL-ONSET, COPROPORPHYRIA, HARDEROPORPHYRIA, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 5, SENGERS SYNDROME, [BLOOD GROUP, LUTHERAN NULL], MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MAY-HEGGLIN ANOMALY, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIF, ?BLEEDING DISORDER, PLATELET-TYPE, 19, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLD TYPE, HOMOCYSTINURIA, CBLD TYPE, VARIANT 1, METHYLMALONIC ACIDURIA, CBLD TYPE, VARIANT 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2, AICARDI-GOUTIERES SYNDROME 5, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1, AICARDI-GOUTIERES SYNDROME 4, FANCONI ANEMIA, COMPLEMENTATION GROUP T, BONE MARROW FAILURE SYNDROME 2, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, {HODGKIN LYMPHOMA, SUSCEPTIBILITY TO}, MITOCHONDRIAL COMPLEX I DEFICIENCY DUE TO ACAD9 DEFICIENCY, VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, THROMBOCYTOPENIA 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, HEMOLYTIC ANEMIA DUE TO GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, IMMUNODEFICIENCY 21, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, LYSINURIC PROTEIN INTOLERANCE, BLEEDING DISORDER, PLATELET-TYPE, 20, INTERSTITIAL LUNG AND LIVER DISEASE, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, TRANSALDOLASE DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIJ, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, HERMANSKY-PUDLAK SYNDROME 1, GLYCOGEN STORAGE DISEASE XII, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, CANDIDIASIS, FAMILIAL, 2, AUTOSOMAL RECESSIVE, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES, {THIOPURINES, POOR METABOLISM OF, 2}, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, SPHEROCYTOSIS, TYPE 3, NEPHRONOPHTHISIS 4, [GLYOXALASE II DEFICIENCY], DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, ?ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2, GM1-GANGLIOSIDOSIS, TYPE II, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, METHEMOGLOBINEMIA, TYPE IV, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, PYRUVATE KINASE DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, NEUTROPENIA, CYCLIC, BLEEDING DISORDER, PLATELET-TYPE, 15, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, FACTOR X DEFICIENCY, IVIC SYNDROME, CHOREOACANTHOCYTOSIS, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, HEREDITARY PYROPOIKILOCYTOSIS, INFANTILE LIVER FAILURE SYNDROME 2, POLYARTERITIS NODOSA, CHILDHOOD-ONSET, NIEMANN-PICK DISEASE, TYPE A, FUMARASE DEFICIENCY, THROMBOCYTHEMIA 3, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC, HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINEMIA SYNDROME, SENIOR-LOKEN SYNDROME-1, NIEMANN-PICK DISEASE, TYPE C2, WHIM SYNDROME, 3-METHYLGLUTACONIC ACIDURIA, TYPE V, HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1, DELTA-BETA THALASSEMIA, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, CHANARIN-DORFMAN SYNDROME, GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIP, PLATELET GLYCOPROTEIN IV DEFICIENCY, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, LYMPHOPROLIFERATIVE SYNDROME 1, HERMANSKY-PUDLAK SYNDROME 9, PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED, GAUCHER DISEASE, TYPE III, HYPERPARATHYROIDISM, NEONATAL, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, {APLASTIC ANEMIA}, LATHOSTEROLOSIS, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, IMMUNODEFICIENCY 46, POIKILODERMA WITH NEUTROPENIA, GALACTOSEMIA, BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, FANCONI ANEMIA, COMPLEMENTATION GROUP L, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, BLEEDING DISORDER, PLATELET-TYPE, 17, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, ABETALIPOPROTEINEMIA, KENNY-CAFFEY SYNDROME, TYPE 2, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2, BLEEDING DISORDER, PLATELET-TYPE, 11, ISOVALERIC ACIDEMIA, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), LEUKOCYTE ADHESION DEFICIENCY, ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, GM1-GANGLIOSIDOSIS, TYPE III, THROMBOCYTOPENIA 4, LYMPHOPROLIFERATIVE SYNDROME 2, OMENN SYNDROME, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, DIAMOND-BLACKFAN ANEMIA 7, HAMAMY SYNDROME, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8, ?BLEEDING DISORDER, PLATELET-TYPE, 18, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, KABUKI SYNDROME 1, FANCONI ANEMIA, COMPLEMENTATION GROUP Q, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, SPHEROCYTOSIS, TYPE 2, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

Associated genes: CA2, APOE, RPL5, ADAMTS13, HBB, CYB5A, CLN3, GP1BA, LBR, CIITA, BMPR1A, RNASEH2A, FTL, ERCC6L2, HAGH, GSS, TTC7A, GGCX, RASGRP2, ENG, FH, AGK, G6PC, APOPT1, GFI1B, GPX1, CYP7B1, RPS24, MMAA, IFIH1, HAMP, F9, MLLT10, THRA, THPO, MTOR, THBD, MGAT2, TBXA2R, ALAD, CD27, HBA2, CBL, AMACR, KCNJ1, TALDO1, JAK2, ANK1, VPS33B, STEAP3, MASTL, ABCD4, RYR1, LPP, ALAS2, FBXL4, CYB5R3, MT-CO1, GATA1, CP, GP6, FANCE, SLC35A2, IL2RA, NRAS, SMAD4, ETV6, SLC4A1, CD40LG, SLC2A1, SRP72, HRG, MMACHC, TPI1, PRKCD, TRMU, VPS13A, HOXA11, HSPA9, CLDN1, XRCC4, PTPN22, VPS13B, SLC7A7, CHIC2, TNFSF11, GIF, MLF1, TGM6, SLC46A1, CD59, KNG1, NPHP1, PTPN11, PEX12, B4GALT1, BCAM, MT-CO2, FLT3, RFXANK, PCCA, CXCR4, ALDOA, SEC23B, MMADHC, RAB40AL, VIPAS39, CALR, CD36, AKR1D1, FANCL, HLA-DQB1, MYH9, SARS2, TF, IVD, P2RX1, SPTB, NOP10, DGKE, RPS26, TREX1, IRX5, RNU4ATAC, MMP1, P2RY12, ACP2, PGK1, ACTN1, DGUOK, SNX10, PCCB, WRAP53, PNPO, TSR2, ITGA2B, G6PC3, FGA, BAAT, DNASE1, CD244, USB1, ANKRD26, COX8A, LMAN1, CYCS, MPO, COG6, PRF1, FGG, PET100, CLCN7, CD81, GLRX5, SLC4A4, FIG4, CRIPT, CBFB, CYP4V2, PIGM, NME1, MPI, HBA1, SLC30A10, PKLR, TTC37, CBS, ANO6, GPI, SCARB2, RPS29, PRKACG, CARD9, SC5D, RHAG, RMRP, CASR, FANCA, LAMTOR2, STAT3, BRAF, CUBN, SOS2, PIGA, STIM1, NT5C3A, ALPL, MMAB, ADAR, FGB, SMAD9, F12, SLC29A3, FUT2, TAZ, UBE2T, HBG2, KLHDC8B, SPINK5, MUT, COG4, SH3GL1, AMPD3, PSTPIP1, HK1, NF1, FARS2, GCLC, NFKBIL1, KIT, BCR, SERPINF2, AIRE, DDX41, SH2B3, IRF5, TPMT, RFT1, ABCB6, PEPD, FTH1, KMT2D, MTR, F13B, SMIM1, F8, TCIRG1, RFX5, PICALM, NUP214, CYP2A6, FCGR2B, ACTN4, PARN, PUS1, PGM3, DCLRE1C, AGA, CTLA4, TMEM67, ADA, EPOR, FCGR2A, C10orf2, SERPINE1, GATA2, C3AR1, F2, SPTA1, F7, FAS, IKBKG, MUC1, AGT, PMM2, AK2, NPHP4, APOB, CTC1, IKZF1, STK11, EGLN1, CCDC115, LCAT, SALL4, RPL15, FANCM, GALT, NPC1, SLC25A38, COX4I2, SBDS, SLFN14, FANCD2, AMN, F5, RIN2, PLEC, RUNX1, IL10, LZTR1, FERMT3, NOS3, NUDT15, PTF1A, CCND1, CAD, AK1, ACVRL1, ITGA2, RFXAP, WHSC1L1, PSMB8, HBG1, ACAD9, SLC25A13, PFKM, SLC35A1, C3, UMOD, SAMHD1, TMEM173, ALG6, GP9, RPS17, COX14, PANK2, WAS, RPL26, ATRX, COL7A1, KCNA5, SETBP1, DKC1, SMPD1, RPS14, NBAS, C15orf41, ABCG8, HLA-DRB1, TMPRSS6, VHL, COL4A1, KIF1B, BRCA1, ITGB2, COQ2, KLF1, PHGDH, FECH, RPS10, TERT, RPS19, RPS7, F13A1, ABCD3, CFH, SRD5A3, SH2D1A, VKORC1, SSR4, SLC40A1, GCNT2, SLC22A4, DPM1, TNFAIP3, AP3B1, TGFB1, ERCC4, MLLT11, SOS1, LRBA, NPM1, GBA, FASTKD2, CACNA1S, ACD, STX11, XK, TMEM165, F10, CISD2, OCLN, VPS45, CD46, TINF2, TMEM199, DHFR, ALG13, BRCA2, TRNT1, HLCS, DNAJC19, FMO3, TBCE, RAG1, PIGT, MYD88, ACP5, TUBB1, YARS2, NBN, TFR2, FAM111A, STT3B, SLC11A2, HPRT1, COX10, MAN2B1, KCNN4, COX6B1, NEU1, ALG2, COX20, TFRC, BLOC1S6, CECR1, CD40, FUT1, HLA-DQA1, ABHD5, VWF, RBM8A, MTTP, LYST, CDAN1, GP1BB, CPOX, TERC, EPHX1, UMPS, MECOM, SCO1, FCGR2C, MPL, GLA, ABCB7, STAT1, FANCC, SLC35C1, SLC25A15, CEBPA, SLC19A2, ABCG5, ITK, BPGM, SPATA5, CFB, BMPR2, TCN2, LARS, SLX4, REN, CFHR3, FTCD, BCS1L, RPS28, SFXN4, MVK, BCL11A, PADI4, NLRC4, SMARCAL1, FOXP3, UROS, KRAS, ELANE, DTNBP1, CFI, FASLG, PIEZO1, PLAU, CYP2C9, SLC37A4, ATP7B, RAG2, NPC2, DDOST, LMBRD1, CSF3R, FLNA, CASP10, RPL35A, GLB1, NSD1, G6PD, ARHGAP26, FGFR2, NBEAL2, CD3G, MARS, RPL11, PDGFRA, RTEL1, TACO1, DPAGT1, PEX19, PNP, MTRR, TBXAS1, ITGB3, MPDU1, CFHR1, NHP2, ATR, FAH, HSD3B7, HPS1, LYRM7