ABNORMALITY OF BLOOD AND BLOOD-FORMING TISSUES, HP:0001871

Associated diseases: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HYPER-IGE RECURRENT INFECTION SYNDROME, 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, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, DIAMOND-BLACKFAN ANEMIA 4, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, WOLFRAM SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 6, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, FACTOR V DEFICIENCY, ELLIPTOCYTOSIS-1, ACRODERMATITIS ENTEROPATHICA, SPECIFIC GRANULE DEFICIENCY, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, 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, THROMBOCYTOPENIA 5, PORENCEPHALY 1, MEDULLARY CYSTIC KIDNEY DISEASE 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, ?RETINAL ARTERIES, TORTUOSITY OF, SALLA DISEASE, KENNY-CAFFEY SYNDROME, TYPE 1, ?REYNOLDS SYNDROME, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, MUCKLE-WELLS SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, LEUKEMIA, ACUTE PROMYELOCYTIC, SOMATIC, LEUKEMIA, ACUTE PROMYELOCYTIC, HERMANSKY-PUDLAK SYNDROME 6, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, IMMUNODEFICIENCY 35, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, ADAMS-OLIVER SYNDROME 5, {MYELODYSPLASTIC SYNDROME, SUSCEPTIBILITY TO},; MYELODYSPLASTIC SYNDROME, SOMATIC, ATRIAL FIBRILLATION, FAMILIAL, 3, MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE), THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 11, INFLAMMATORY BOWEL DISEASE 28, EARLY ONSET, AUTOSOMAL RECESSIVE, PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 19, VON WILLEBRAND DISEASE, TYPE 1, INCONTINENTIA PIGMENTI, SECKEL SYNDROME 1, CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS, ?AGAMMAGLOBULINEMIA 5, BLEEDING DISORDER, PLATELET-TYPE, 15, FAVISM, LYMPHOMA, MALT, SOMATIC, TRIMETHYLAMINURIA, ?GLYCOPROTEIN IA DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 10, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, BLOOD GROUP--LUTHERAN INHIBITOR, ATRANSFERRINEMIA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, CYANOSIS, TRANSIENT NEONATAL, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, 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, BURKITT LYMPHOMA, SELECTIVE T-CELL DEFECT, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, LYSYL HYDROXYLASE 3 DEFICIENCY, THALASSEMIA, ALPHA-, THALASSEMIAS, ALPHA-, {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, HERMANSKY-PUDLAK SYNDROME 5, [BLOOD GROUP, P1PK SYSTEM, P PHENOTYPE], NOR POLYAGGLUTINATION SYNDROME, [BLOOD GROUP, P1PK SYSTEM, P(2) PHENOTYPE], [BLOOD GROUP, P1PK SYSTEM, P(K) PHENOTYPE], HYPER-IGD SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX, SARCOIDOSIS, EARLY-ONSET, CHLORAMPHENICOL TOXICITY, COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS, ETHYLMALONIC ENCEPHALOPATHY, VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, ELLIPTOCYTOSIS-2, EHLERS-DANLOS SYNDROME, TYPE VIIC, AGAMMAGLOBULINEMIA 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, CHOLESTERYL ESTER STORAGE DISEASE, WOLMAN DISEASE, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, GAUCHER DISEASE, TYPE IIIC, IMMUNODEFICIENCY, COMMON VARIABLE, 5, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, HYPERMANGANESEMIA WITH DYSTONIA, POLYCYTHEMIA, AND CIRRHOSIS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, TN POLYAGGLUTINATION SYNDROME, SOMATIC, EXUDATIVE VITREORETINOPATHY 1, CORNELIA DE LANGE SYNDROME 1, TYROSINEMIA, TYPE I, SCOTT SYNDROME, HYPERLYSINEMIA, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE, AGAMMAGLOBULINEMIA 4, ASPARTYLGLUCOSAMINURIA, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, LESCH-NYHAN SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, MENKES DISEASE, THROMBOCYTHEMIA 2, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA, FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, FLETCHER FACTOR (PREKALLIKREIN) DEFICIENCY, GLANZMANN THROMBASTHENIA, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, EHLERS-DANLOS SYNDROME, TYPE VI, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 4, ANEMIA, SIDEROBLASTIC, WITH ATAXIA, CARTILAGE-HAIR HYPOPLASIA, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, AGAMMAGLOBULINEMIA 3, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME, ROIFMAN SYNDROME, QUEBEC PLATELET DISORDER, THROMBOTIC THROMBOCYTOPENIC PURPURA, FAMILIAL, LIVER FAILURE, TRANSIENT INFANTILE, ANEMIA, SIDEROBLASTIC, 1, THROMBOCYTOPENIA, CONGENITAL AMEGAKARYOCYTIC, THALASSEMIAS, BETA-, THALASSEMIA, HISPANIC GAMMA-DELTA-BETA, PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY, DIAMOND-BLACKFAN ANEMIA 3, RIDDLE SYNDROME, NETHERTON SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU 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, PROTEUS SYNDROME, SOMATIC, MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS, HERMANSKY-PUDLAK SYNDROME 3, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, ANEMIA, SIDEROBLASTIC, 4, GAUCHER DISEASE, PERINATAL LETHAL, FANCONI ANEMIA, COMPLEMENTATION GROUP A, FANCONI ANEMIA, COMPLEMENTATION GROUP P, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, MISMATCH REPAIR CANCER SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME, SOMATIC, FACTOR XIIIB DEFICIENCY, BONE MARROW FAILURE SYNDROME 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, CHIME SYNDROME, NIJMEGEN BREAKAGE SYNDROME, COMBINED FACTOR V AND VIII DEFICIENCY, PORPHYRIA, ACUTE HEPATIC, {LEAD POISONING, SUSCEPTIBILITY TO}, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, FACTOR XI DEFICIENCY, AUTOSOMAL RECESSIVE, FACTOR XI DEFICIENCY, AUTOSOMAL DOMINANT, {DEEP VENOUS THROMBOSIS, PROTECTION AGAINST}, THROMBOPHILIA, X-LINKED, DUE TO FACTOR IX DEFECT, ANEMIA, HEMOLYTIC, DUE TO UMPH1 DEFICIENCY, ARTERIAL TORTUOSITY SYNDROME, FARBER LIPOGRANULOMATOSIS, SPHEROCYTOSIS, TYPE 4, SPHEROCYTOSIS, TYPE 1, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, HYPOPHOSPHATASIA, INFANTILE, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, FAMILIAL MEDITERRANEAN FEVER, AR, STORMORKEN SYNDROME, NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS, PROPIONICACIDEMIA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2, IMMUNODEFICIENCY WITH HYPER IGM, TYPE 5, LEUKEMIA, CHRONIC MYELOID, SOMATIC, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, ACUTE MYELOID LEUKEMIA, M6 TYPE, FACTOR XII DEFICIENCY, CHOREOACANTHOCYTOSIS, ATAXIA-TELANGIECTASIA, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5, FOLATE MALABSORPTION, HEREDITARY, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, DIAMOND-BLACKFAN ANEMIA 8, GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY, SPHEROCYTOSIS, TYPE 2, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DYSKERATOSIS CONGENITA, X-LINKED, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY, PRIMARY PULMONARY HYPERTENSION, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, OVERHYDRATED HEREDITARY STOMATOCYTOSIS, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, HEMOLYTIC ANEMIA DUE TO ADENYLATE KINASE DEFICIENCY, RHEUMATOID ARTHRITIS, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, ERYTHROCYTOSIS DUE TO BISPHOSPHOGLYCERATE MUTASE DEFICIENCY, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, SEBASTIAN SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, IMMUNODEFICIENCY, ISOLATED, 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, 3-METHYLGLUTACONIC ACIDURIA, TYPE V, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, IMMUNODEFICIENCY 36, FANCONI ANEMIA, COMPLEMENTATION GROUP C, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, RETICULAR DYSGENESIS, NEPHRONOPHTHISIS 1, JUVENILE, SHWACHMAN-DIAMOND SYNDROME, NON-IMMUNE HYDROPS FETALIS, ?INFANTILE LIVER FAILURE SYNDROME 1, ?IMMUNODEFICIENCY 25, PROLIDASE DEFICIENCY, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS, TRICHOHEPATOENTERIC SYNDROME 1, OVALOCYTOSIS, SA TYPE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, PEROXISOME BIOGENESIS DISORDER 3B, DIGEORGE SYNDROME, FRUCTOSE INTOLERANCE, COMMON VARIABLE IMMUNODEFICIENCY 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 2, {APLASTIC ANEMIA}, APLASTIC ANEMIA, {APLASTIC ANEMIA, SUSCEPTIBILITY TO}, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, 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, [BLOOD GROUP, GERBICH], IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY 23, EPSTEIN SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5, THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, IMMUNODEFICIENCY 24, CEREBRAL CAVERNOUS MALFORMATIONS 3, KRABBE DISEASE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA, LOEYS-DIETZ SYNDROME 5, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, THROMBOPHILIA DUE TO THROMBOMODULIN DEFECT, VELOCARDIOFACIAL SYNDROME, ?N SYNDROME, SIALIC ACID STORAGE DISORDER, INFANTILE, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, ERYTHROCYTOSIS, FAMILIAL, 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, CEROID LIPOFUSCINOSIS, NEURONAL, 3, ?LYSOSOMAL ACID PHOSPHATASE DEFICIENCY, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY, HEMOGLOBIN H DISEASE, NONDELETIONAL, VON WILLEBRAND DISEASE, PLATELET-TYPE, HYPOBETALIPOPROTEINEMIA, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, AICARDI-GOUTIERES SYNDROME 6, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, NEPHRONOPHTHISIS 11, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, ERYTHROCYTOSIS, FAMILIAL, 3, CD8 DEFICIENCY, FAMILIAL, GRISCELLI SYNDROME, TYPE 2, FACTOR XIIIA DEFICIENCY, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY, METHYLMALONIC ACIDURIA, MUT(0) TYPE, T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AUTOIMMUNITY, AND CARDIAC MALFORMATIONS, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, SEA-BLUE HISTIOCYTE DISEASE, CPT II DEFICIENCY, LETHAL NEONATAL, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, IMMUNODEFICIENCY 10, GAUCHER DISEASE, TYPE II, HEMOPHILIA A, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, HERMANSKY-PUDLAK SYNDROME 7, MCLEOD SYNDROME WITH OR WITHOUT CHRONIC GRANULOMATOUS DISEASE, REVESZ SYNDROME, IMMUNODEFICIENCY 15, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, CAMURATI-ENGELMANN DISEASE, VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, THROMBOCYTOPENIA 2, ?THROMBOCYTOPENIA-2, C2 DEFICIENCY, WILSON DISEASE, SENIOR-LOKEN SYNDROME 4, ?DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY, ?TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE, FANCONI ANEMIA, COMPLEMENTATION GROUP G, AGAMMAGLOBULINEMIA 2, FANCONI ANEMIA, COMPLEMENTATION GROUP E, FECHTNER SYNDROME, ANEMIA, HEMOLYTIC, RH-NULL, REGULATOR TYPE, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY, ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, FANCONI ANEMIA, COMPLEMENTATION GROUP J, FUCOSIDOSIS, FANCONI ANEMIA, COMPLEMENTATION GROUP I, IMMUNODEFICIENCY 43, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, DIAMOND-BLACKFAN ANEMIA 9, GLYCOGEN STORAGE DISEASE VII, OROTIC ACIDURIA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEVALONIC ACIDURIA, SITOSTEROLEMIA, NORUM DISEASE, {PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF}, PSEUDOXANTHOMA ELASTICUM, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, GLUTATHIONE SYNTHETASE DEFICIENCY, NIEMANN-PICK DISEASE TYPE C1, SPLENIC HYPOPLASIA, GREENBERG SKELETAL DYSPLASIA, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, SPHEROCYTOSIS, TYPE 5, 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, DIAMOND-BLACKFAN ANEMIA 13, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, TRANSCOBALAMIN II DEFICIENCY, LOEYS-DIETZ SYNDROME 3, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, YUNIS-VARON SYNDROME, OSTEOPETROSIS, AUTOSOMAL DOMINANT 2, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, [BLOOD GROUP, RADIN], HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, CHYLOMICRON RETENTION DISEASE, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, HEME OXYGENASE-1 DEFICIENCY, ?DIAMOND-BLACKFAN ANEMIA 11, ?IMMUNODEFICIENCY 13, DIAMOND-BLACKFAN ANEMIA 10, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, FACTOR VII DEFICIENCY, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES, OSTEOGENESIS IMPERFECTA, TYPE I, NEUTROPENIA, SEVERE CONGENITAL 2, AUTOSOMAL DOMINANT, HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME, POLYCYTHEMIA VERA, SOMATIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, WOLFRAM SYNDROME 2, KAPPA LIGHT CHAIN DEFICIENCY, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IB, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3, COHEN SYNDROME, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, AICARDI-GOUTIERES SYNDROME 3, ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18, IMMUNODEFICIENCY 14, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, BANNAYAN-RILEY-RUVALCABA SYNDROME, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, LEUKEMIA, ACUTE LYMPHOBLASTIC, LEUKEMIA, ACUTE LYMPHOBLASTIC, SOMATIC, LEUKEMIA, T-CELL ACUTE LYMPHOBLASTIC, SOMATIC, T-CELL ACUTE LYMPHOBLASTIC LEUKEMIA, SOMATIC, LEUKEMIA, T-CELL ACUTE LYMPHOCYTIC, SOMATIC, LEUKEMIA, ACUTE LYMPHOCYTIC, SOMATIC, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE PEROXIDASE DEFICIENCY, CRYOHYDROCYTOSIS, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, GAUCHER DISEASE, TYPE III, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, VICI SYNDROME, HEMOPHILIA B, IMMUNODEFICIENCY, COMMON VARIABLE, 7, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, PEUTZ-JEGHERS SYNDROME, WISKOTT-ALDRICH SYNDROME, THROMBOCYTOPENIC PURPURA, AUTOIMMUNE, BERGER DISEASE, NIEMANN-PICK DISEASE, TYPE B, INTRINSIC FACTOR DEFICIENCY, ADULT I PHENOTYPE WITHOUT CATARACT, [BLOOD GROUP, II], ?CHARGE SYNDROME, CHARGE SYNDROME, MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, THROMBOPHILIA DUE TO HRG DEFICIENCY, THROMBOPHILIA DUE TO ELEVATED HRG, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, NOONAN SYNDROME 3, IMMUNODEFICIENCY, COMMON VARIABLE, 2, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, COENZYME Q10 DEFICIENCY, PRIMARY, 1, ?CRANIOECTODERMAL DYSPLASIA 4, ALPORT SYNDROME, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, COPROPORPHYRIA, HARDEROPORPHYRIA, 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, HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 5, SENGERS SYNDROME, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, BLOOM SYNDROME, [BLOOD GROUP, LUTHERAN NULL], NEPHROTIC SYNDROME, TYPE 7, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7}, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MAY-HEGGLIN ANOMALY, GLYCOGEN STORAGE DISEASE IA, IMMUNOGLOBULIN A DEFICIENCY 2, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IA, 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIF, ?BLEEDING DISORDER, PLATELET-TYPE, 19, PORENCEPHALY 2, [HEMOGLOBIN, HIGH ALTITUDE ADAPTATION], METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLD TYPE, HOMOCYSTINURIA, CBLD TYPE, VARIANT 1, METHYLMALONIC ACIDURIA, CBLD TYPE, VARIANT 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, ERYTHROCYTOSIS, FAMILIAL, 4, GAUCHER DISEASE, ATYPICAL, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1, OCCIPITAL HORN SYNDROME, 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, IMMUNODEFICIENCY, COMMON VARIABLE, 12, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {CELIAC DISEASE, SUSCEPTIBILITY TO}, HERMANSKY-PUDLAK SYNDROME 4, WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, THROMBOPHILIA DUE TO HEPARIN COFACTOR II DEFICIENCY, HEMOLYTIC ANEMIA DUE TO GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, IMMUNODEFICIENCY 21, HEMOLYTIC ANEMIA DUE TO G6PD DEFICIENCY, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, LYSINURIC PROTEIN INTOLERANCE, GAUCHER DISEASE, TYPE I, ?IMMUNODEFICIENCY 37, INTERSTITIAL LUNG AND LIVER DISEASE, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, TRANSALDOLASE DEFICIENCY, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION AND NEOPLASIA, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, HYPERFIBRINOLYSIS, FAMILIAL, DUE TO INCREASED RELEASE OF PLAT, THROMBOPHILIA, FAMILIAL, DUE TO DECREASED RELEASE OF PLAT, FANCONI ANEMIA, COMPLEMENTATION GROUP N, HERMANSKY-PUDLAK SYNDROME 1, [EOSINOPHIL PEROXIDASE DEFICIENCY], ?HYPERPROLACTINEMIA, SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY, AGAMMAGLOBULINEMIA, X-LINKED 1, GLYCOGEN STORAGE DISEASE XII, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7, CANDIDIASIS, FAMILIAL, 2, AUTOSOMAL RECESSIVE, DIAMOND-BLACKFAN ANEMIA 5, OKT4 EPITOPE DEFICIENCY, FANCONI ANEMIA, COMPLEMENTATION GROUP B, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, SPHEROCYTOSIS, TYPE 3, NEPHRONOPHTHISIS 4, [GLYOXALASE II DEFICIENCY], DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, HERMANSKY-PUDLAK SYNDROME 8, ?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, ISOBUTYRYL-COA DEHYDROGENASE DEFICIENCY, ?IMMUNODEFICIENCY 16, METHEMOGLOBINEMIA, TYPE IV, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, PYRUVATE KINASE DEFICIENCY, PITUITARY DEPENDENT HYPERCORTISOLISM, MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES, GHOSAL HEMATODIAPHYSEAL SYNDROME, NEUTROPENIA, CYCLIC, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA, VITREORETINOCHOROIDOPATHY, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, FACTOR X DEFICIENCY, SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN TYPE, IVIC SYNDROME, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, HEREDITARY PYROPOIKILOCYTOSIS, ?WISKOTT-ALDRICH SYNDROME 2, POLYARTERITIS NODOSA, CHILDHOOD-ONSET, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5, NIEMANN-PICK DISEASE, TYPE A, FUMARASE DEFICIENCY, THROMBOCYTHEMIA 3, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, GM1-GANGLIOSIDOSIS, TYPE I, IMMUNODEFICIENCY, COMMON VARIABLE, 3, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC, SENIOR-LOKEN SYNDROME-1, NIEMANN-PICK DISEASE, TYPE C2, WHIM SYNDROME, CEREBRAL AMYLOID ANGIOPATHY, HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1, DELTA-BETA THALASSEMIA, LI-FRAUMENI SYNDROME, {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, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME, PLATELET GLYCOPROTEIN IV DEFICIENCY, METHYLMALONIC ACIDURIA CBLB TYPE, GRAY PLATELET SYNDROME, EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE, LYMPHOPROLIFERATIVE SYNDROME 1, PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, HYPERPARATHYROIDISM, NEONATAL, ABETALIPOPROTEINEMIA, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, {APLASTIC ANEMIA}, LATHOSTEROLOSIS, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, EXUDATIVE VITREORETINOPATHY 4, IMMUNODEFICIENCY 8, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, POIKILODERMA WITH NEUTROPENIA, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, GALACTOSEMIA, BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, FANCONI ANEMIA, COMPLEMENTATION GROUP L, EHLERS-DANLOS SYNDROME, TYPE IV, BLEEDING DISORDER, PLATELET-TYPE, 17, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, AGAMMAGLOBULINEMIA 6, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, KENNY-CAFFEY SYNDROME, TYPE 2, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2, BLEEDING DISORDER, PLATELET-TYPE, 11, MALIGNANT LYMPHOMA, NON-HODGKIN, ISOVALERIC ACIDEMIA, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), LEUKOCYTE ADHESION DEFICIENCY, PEELING SKIN SYNDROME 1, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY, DIAMOND-BLACKFAN ANEMIA 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, GM1-GANGLIOSIDOSIS, TYPE III, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, THROMBOCYTOPENIA 4, LOEYS-DIETZ SYNDROME 4, LYMPHOPROLIFERATIVE SYNDROME 2, MAST CELL DISEASE, OMENN SYNDROME, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, MYOTONIC DYSTROPHY 2, DIAMOND-BLACKFAN ANEMIA 7, HAMAMY SYNDROME, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, FANCONI ANEMIA, COMPLEMENTATION GROUP F, ?BLEEDING DISORDER, PLATELET-TYPE, 18, KABUKI SYNDROME 1, FANCONI ANEMIA, COMPLEMENTATION GROUP Q, HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME-2, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

Associated genes: CA2, APOE, RPL5, RPSA, MSH6, HBB, CYB5A, RASGRP2, EPAS1, EPX, GP1BA, LBR, TCF3, CIITA, COL3A1, YARS2, SFTPA2, GUSB, LYRM7, GSS, ETHE1, TTC7A, GGCX, PROS1, B2M, SLC17A5, SPINK1, ENG, FH, CAPN3, AGK, HLA-DQA1, G6PC, PNPO, MS4A1, GFI1B, PMS2, GPX1, CYP7B1, RPS24, CTRC, F7, ABHD5, COX4I2, SPINK5, F9, CD79A, GNAS, MLLT10, THRA, C2, CBS, BUB1B, ASAH1, NOD2, CST3, THSD1, MGAT2, BMPR1A, PIK3CD, GTF2H5, ALAD, ABCB7, HBA2, KCNJ1, CBL, AMACR, KLKB1, JAK2, NPM1, RNASEH2A, CYP4F22, VPS33B, KCNN4, STEAP3, MASTL, ABCD4, KRIT1, RYR1, LPP, ALAS2, FBXL4, KMT2A, FAH, TYK2, SLC30A10, PMM2, MT-CO1, GATA1, CP, GP6, FANCE, MCFD2, NRAS, IGLL1, ATOH7, CD151, SMAD4, RFXANK, CHST14, GDNF, IGHM, SLC2A1, SLC19A2, ICOS, HRG, CHRNA1, FZD6, MMACHC, TPI1, AIP, BLNK, DNAH14, B3GALNT1, MTTP, PRKCD, RARA, BRIP1, THBD, RAD54B, TRMU, VPS13A, UNC119, RNU4ATAC, HOXA11, HSPA9, MMAA, XRCC4, PTPN22, GYPC, VPS13B, TNFRSF13B, SLC7A7, POLA1, CHIC2, TNFSF11, GIF, TNFRSF11A, MLF1, PIGC, TGM6, SLC46A1, CD59, KNG1, NPHP1, PIGL, COL5A2, CXCR4, B4GALT1, STAT3, MT-CO2, FLT3, PTPN11, PCCA, LCAT, PEX12, ALDOA, BRAF, MMADHC, SALL4, PHF11, RAB40AL, NT5C3A, RNF113A, CD36, AKR1D1, FANCL, LIPA, MYH9, SARS2, TF, IVD, HPS4, SPTB, PLAT, NOP10, DGKE, GPI, DNM2, CYBA, TREX1, APOB, NCF1, MMP1, CPT2, P2RY12, ACP2, CD8A, RPS7, COL1A2, DGUOK, CAPN5, SNX10, SFTPA1, PCCB, TNXB, SF3B1, PDE11A, APOPT1, TSR2, ITGA2B, REN, G6PC3, FGA, BAAT, DNASE1, LRBA, COL4A5, USB1, ANKRD26, COX8A, LMAN1, CYCS, MPO, TAL1, COG6, PRF1, MEFV, FGG, USP8, FOXN1, PET100, CD79B, CLCN7, IL2RG, CD81, GLRX5, CYB5R3, FIG4, TAL2, TGFB2, ALDOB, CYP4V2, CD3D, PIGM, NME1, DPAGT1, HBA1, VWF, NOTCH1, WDR19, TTC37, SMAD9, ANO6, CRIPT, CD3E, SCARB2, RPS29, FZD4, FASTKD2, CARD9, CD247, MYOM1, RHAG, RMRP, AK1, PADI4, HPRT1, NLRC4, FANCA, RB1, AICDA, STX11, EPG5, CD4, FANCI, CUBN, NFKB2, PIGR, HPS6, STIM1, CALR, ALPL, MMAB, ADAR, FGB, SRP72, TCN2, SLC29A3, G6PD, SC5D, TAZ, AASS, UBE2T, HBG2, KLHDC8B, IFIH1, OSTM1, PLEC, MUT, TP53, HLA-DQB1, NCF2, BPGM, IKBKB, SH3GL1, RNASEH2C, UROS, PDCD10, HK1, PRSS1, FARS2, FERMT3, GCLC, UNC13D, NFKBIL1, KIT, BCR, SERPINF2, IFT140, DDX41, SH2B3, IRF5, VPS45, CYBB, HAVCR1, TPMT, ALB, JAGN1, RFT1, CLDN1, PGM1, PEPD, EPB42, KMT2D, DTNBP1, MTR, EPB41, F13B, STAT1, CD46, F8, TCIRG1, RFX5, PICALM, CLPB, NUP214, BLM, FCGR2B, TINF2, LRP5, PUS1, PGM3, CEBPE, AGA, ACTN1, CTLA4, TMEM67, HABP2, ADAM17, EPOR, SMAD3, NLRP3, C10orf2, SERPINE1, IL21, ERCC6L2, C3AR1, CYP2C9, F2, SPTA1, TET2, FAS, BRCA2, IKBKG, GNAI2, MUC1, RPS26, AGT, IGKC, MOGS, MTHFR, AK2, BEST1, NPHP4, GALC, IRX5, CTC1, NEB, PAX5, STK11, EGLN1, F11, HPS5, IL21R, RPL15, MYC, FANCM, NUMA1, PIK3CA, RFXAP, NPC1, SLC25A38, TEK, SBDS, FMO3, ACAD8, PRKACG, NF1, FANCD2, AMN, F5, RIN2, LIG4, RUNX1, IL10, CASP8, SLC2A10, SLC39A4, PGK1, NOS3, PARN, DCLRE1C, CCND1, CAD, GATA2, ACVRL1, THPO, WIPF1, MS4A2, ITGA2, KRT1, GALT, WHSC1L1, PLOD1, PROC, PLOD3, PSMB8, HBG1, ACAD9, RPS17, PFKM, SLC35A1, C3, FKBP14, ADAMTS2, MLH1, ALG6, GP9, TALDO1, COX14, PANK2, MLLT11, AIRE, TBX1, RPL26, ATRX, COL7A1, KCNA5, UBN1, DKC1, SMPD1, RPS14, C15orf41, RPS28, WRAP53, SDHD, ABCG8, HLA-DRB1, TMPRSS6, HAGH, GALNT14, VHL, COL4A1, SMARCAL1, BRCA1, ITGB2, PRKAR1A, SETX, TMEM173, COQ2, KLF1, TAF6, PRSS23, PHGDH, FECH, RPS10, CTPS1, TERT, RPS19, PTEN, F13A1, ABCD3, CFH, FANCB, COX10, P2RX1, GDF2, SRD5A3, SH2D1A, VKORC1, F12, CLN3, SERPINC1, ASXL1, KCNQ1, GCNT2, IL4R, SLC22A4, DPM1, DOCK8, BCL10, PTRF, JAK3, MAN2B1, ATP7A, AP3B1, TGFB1, ERCC4, WAS, TMEM127, BCAM, SOS1, CD244, BAX, ZBTB24, GBA, SP110, CACNA1S, ACD, LAMTOR2, APP, XK, TMEM165, F10, CISD2, MTAP, CD27, OCLN, ZAP70, MPLKIP, HPS3, BLOC1S3, DHFR, PALB2, PLAU, XIAP, ISCU, FUCA1, TRNT1, HLCS, COL1A1, DNAJC19, CNBP, TBCE, RAG1, PIGT, MYD88, ACP5, TUBB1, SETBP1, RAB27A, NBN, HAX1, MUC5B, SCO1, COL5A1, FAM111A, STT3B, SLC11A2, CDSN, BTK, CDKN2A, IL2RA, COX6B1, NEU1, ALG2, COX20, ERCC2, UNG, XYLT1, CECR1, XYLT2, CD40, UMPS, CYP2A6, FCGR2C, MT-RNR2, PDGFRB, SERPIND1, PRSS2, CHD7, KRAS, TNFRSF13C, NIPBL, PTPRC, NKX2-5, WFS1, PLA2G7, LYST, ETV6, CDAN1, GP1BB, CPOX, TERC, EPHX1, SDHB, HMOX1, ZNF408, MPL, RPL11, IFNG, CD40LG, FANCG, PRLR, FANCC, RAD54L, SLC35C1, SLC4A1, CEBPA, MAX, TNFRSF4, ABCG5, ITK, SEC23B, SPATA5, IFNGR1, CFB, BMPR2, LARS, ADAMTS13, SLX4, A4GALT, IL7R, CFHR3, FTCD, BCS1L, CBFB, SFXN4, MVK, BCL11A, TGFB3, LRRC8A, CASR, COL4A2, SLC4A4, KIF1B, FOXP3, TBXAS1, ERMAP, STK4, ELANE, CARD11, CFI, RBM8A, FASLG, PIEZO1, STXBP2, ABCC6, C1GALT1C1, GFI1, AKT1, MCM4, SLC37A4, ATP7B, DNMT3B, SEMA3E, RAG2, FANCF, LCRB, ADA, NPC2, LMBRD1, NHP2, CSF3R, FLNA, PSAP, MAGT1, MPI, RNF168, CASP10, RPL35A, ATM, GLB1, SLC39A13, NSD1, NFKB1, FCGR2A, PRKACA, CD19, PKLR, IL10RA, TBXA2R, ARHGAP26, MSH2, PLCG2, NBEAL2, CD3G, MARS, GLA, PDGFRA, RTEL1, TACO1, RET, PNP, HPS1, KRT9, ITGB3, ANK1, SERAC1, CFHR1, SAR1B, CFTR, ATR, SELP, CR2, HSD3B7, MTRR, CORO1A, PIK3R1