ABNORMALITY OF THE IMMUNE SYSTEM, HP:0002715

Associated diseases: MULLERIAN APLASIA AND HYPERANDROGENISM, HYPER-IGE RECURRENT INFECTION SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, MANNOSIDOSIS, ALPHA-, TYPES I AND II, SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, AICARDI-GOUTIERES SYNDROME 7, ?AGAMMAGLOBULINEMIA 5, ?NEUTROPHILIA, HEREDITARY, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, C4B DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, SELECTIVE T-CELL DEFECT, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIN, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CILIARY DYSKINESIA, PRIMARY, 30, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME, ?IMMUNODEFICIENCY 39, NEPHRONOPHTHISIS 19, ACRODERMATITIS ENTEROPATHICA, SPECIFIC GRANULE DEFICIENCY, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 19, DYSKERATOSIS CONGENITA, X-LINKED, DYSAUTONOMIA, FAMILIAL, SICKLE CELL ANEMIA, PERIODONTITIS 1, JUVENILE, THROMBOCYTOPENIA 5, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SALLA DISEASE, KENNY-CAFFEY SYNDROME, TYPE 1, ?REYNOLDS SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE), IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, NEUTROPENIA, CYCLIC, NEPHROPATHY DUE TO CFHR5 DEFICIENCY, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, LEUKEMIA, ACUTE PROMYELOCYTIC, SOMATIC, LEUKEMIA, ACUTE PROMYELOCYTIC, HAIM-MUNK SYNDROME, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, IMMUNODEFICIENCY 35, ADAMS-OLIVER SYNDROME 5, CORNELIA DE LANGE SYNDROME 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE), VELOCARDIOFACIAL SYNDROME, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, HELSMOORTEL-VAN DER AA SYNDROME, INFLAMMATORY BOWEL DISEASE 28, EARLY ONSET, AUTOSOMAL RECESSIVE, PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL RECESSIVE, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, IMMUNODEFICIENCY, COMMON VARIABLE, 2, ACHONDROPLASIA, INCONTINENTIA PIGMENTI, C3 DEFICIENCY, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION, ZINC DEFICIENCY, TRANSIENT NEONATAL, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, C2 DEFICIENCY, SINGLETON-MERTEN SYNDROME 1, ?LACRIMAL DUCT DEFECT, ?CANDIDIASIS, FAMILIAL, 5, AUTOSOMAL RECESSIVE, FLOATING-HARBOR SYNDROME, INFLAMMATORY BOWEL DISEASE 25, EARLY ONSET, AUTOSOMAL RECESSIVE, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), CILIARY DYSKINESIA, PRIMARY, 7, WITH OR WITHOUT SITUS INVERSUS, PRADER-WILLI SYNDROME, ?TETRA-AMELIA SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IIID, COWDEN SYNDROME 6, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, CARPENTER SYNDROME, HAY-WELLS SYNDROME, T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, IMMUNODEFICIENCY, COMMON VARIABLE, 6, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, SEBASTIAN SYNDROME, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS, ?CANDIDIASIS, FAMILIAL, 6, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 12, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, KLEEFSTRA SYNDROME, IMMUNODEFICIENCY 38, NAIL-PATELLA SYNDROME, ?COMPLEMENT FACTOR B DEFICIENCY, GHOSAL HEMATODIAPHYSEAL SYNDROME, TRICHOHEPATOENTERIC SYNDROME 1, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, SARCOIDOSIS, EARLY-ONSET, COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS, C8 DEFICIENCY, TYPE II, HYPOCALCIURIC HYPERCALCEMIA, TYPE II, CLOVE SYNDROME, SOMATIC, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8, MICROPHTHALMIA, SYNDROMIC 9, MUCOPOLYSACCHARIDOSIS VII, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), AGAMMAGLOBULINEMIA 1, CILIARY DYSKINESIA, PRIMARY, 6, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, XANTHINURIA, TYPE I, CHOLESTERYL ESTER STORAGE DISEASE, WOLMAN DISEASE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, GLYCOGEN STORAGE DISEASE IC, NICOLAIDES-BARAITSER SYNDROME, GAUCHER DISEASE, TYPE IIIC, KERATITIS, 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, HEMOCHROMATOSIS TYPE 1, HYPER-IGD SYNDROME, OGDEN SYNDROME, {HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 2}, CILIARY DYSKINESIA, PRIMARY, 14, CILIARY DYSKINESIA, PRIMARY, 18, TRIMETHYLAMINURIA, {HODGKIN LYMPHOMA, SUSCEPTIBILITY TO}, FANCONI ANEMIA, COMPLEMENTATION GROUP G, TN POLYAGGLUTINATION SYNDROME, SOMATIC, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 2, TYROSINEMIA, TYPE I, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, LIPOPROTEIN LIPASE DEFICIENCY, SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY, ASPARTYLGLUCOSAMINURIA, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, XERODERMA PIGMENTOSUM, VARIANT TYPE, SMITH-MAGENIS SYNDROME, {HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 1}, MARSHALL-SMITH SYNDROME, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA, CANDIDIASIS, FAMILIAL, 9, COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, ROUSSY-LEVY SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VI, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, CROUZON SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, CARTILAGE-HAIR HYPOPLASIA, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, CAUDAL REGRESSION SYNDROME, AGAMMAGLOBULINEMIA 3, CURRARINO SYNDROME, HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE, {LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO}, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, UROFACIAL SYNDROME 1, ARTS SYNDROME, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY, RIDDLE SYNDROME, NETHERTON SYNDROME, CHEDIAK-HIGASHI SYNDROME, TUMORAL CALCINOSIS, FAMILIAL, NORMOPHOSPHATEMIC, IMMUNODEFICIENCY 20, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4, MUCOPOLYSACCHARIDOSIS IVA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, PROTEUS SYNDROME, SOMATIC, PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], JOUBERT SYNDROME 10, {H. PYLORI INFECTION, SUSCEPTIBILITY TO}, COCKAYNE SYNDROME, TYPE A, GAUCHER DISEASE, PERINATAL LETHAL, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, CILIARY DYSKINESIA, PRIMARY, 21, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, MISMATCH REPAIR CANCER SYNDROME, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, CILIARY DYSKINESIA, PRIMARY, 25, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, NIJMEGEN BREAKAGE SYNDROME, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, COMPLEMENT FACTOR D DEFICIENCY, RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH OR WITHOUT DEAFNESS, MELNICK-NEEDLES SYNDROME, CILIARY DYSKINESIA, PRIMARY, 20, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, BLAU SYNDROME, GAUCHER DISEASE, ATYPICAL, FARBER LIPOGRANULOMATOSIS, SPHEROCYTOSIS, TYPE 4, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, SPHEROCYTOSIS, TYPE 1, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, POLYMORPHOUS CORNEAL DYSTROPHY, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, FAMILIAL MEDITERRANEAN FEVER, AR, MUCOLIPIDOSIS II ALPHA/BETA, STORMORKEN SYNDROME, NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS, PROPIONICACIDEMIA, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, SPINAL MUSCULAR ATROPHY-2, ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, IMMUNODEFICIENCY WITH HYPER IGM, TYPE 5, LEUKEMIA, CHRONIC MYELOID, SOMATIC, EPIDERMOLYTIC HYPERKERATOSIS, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, {APLASTIC ANEMIA}, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, ACUTE MYELOID LEUKEMIA, M6 TYPE, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, ATAXIA-TELANGIECTASIA, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, GM1-GANGLIOSIDOSIS, TYPE I, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, {DIABETES MELLITUS, KETOSIS-PRONE, SUSCEPTIBILITY TO}, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIJ, PERIODIC FEVER, FAMILIAL, IMMUNODEFICIENCY, COMMON VARIABLE, 4, GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME-2, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, SOTOS SYNDROME 1, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, ?SNEDDON SYNDROME, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, OVERHYDRATED HEREDITARY STOMATOCYTOSIS, [BLOOD GROUP, DUFFY SYSTEM], BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, ECTODERMAL, DYSPLASIA, ANHIDROTIC, LYMPHEDEMA AND IMMUNODEFICIENCY, MARTSOLF SYNDROME, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1, PSEUDOHYPOALDOSTERONISM, TYPE I, RHEUMATOID ARTHRITIS, ERYTHROCYTOSIS DUE TO BISPHOSPHOGLYCERATE MUTASE DEFICIENCY, INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 1, {PNEUMOCOCCAL DISEASE, INVASIVE, PROTECTION AGAINST}, {HERPES SIMPLEX ENCEPHALITIC, SUSCEPTIBILITY TO, 6}, IMMUNODEFICIENCY, ISOLATED, C5 DEFICIENCY, ?LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3, CORTISONE REDUCTASE DEFICIENCY 1, MUCOPOLYSACCHARIDOSIS IH, OPSISMODYSPLASIA, MYELOPEROXIDASE DEFICIENCY, HERMANSKY-PUDLAK SYNDROME 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIL, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, COMMON VARIABLE IMMUNODEFICIENCY 1, CILIARY DYSKINESIA, PRIMARY, 12, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, FANCONI ANEMIA, COMPLEMENTATION GROUP C, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, RETICULAR DYSGENESIS, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, SHWACHMAN-DIAMOND SYNDROME, ROIFMAN SYNDROME, COACH SYNDROME, KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED, ?IMMUNODEFICIENCY 25, PROLIDASE DEFICIENCY, NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 2, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, PSORIASIS 14, PUSTULAR, MYASTHENIC SYNDROME, CONGENITAL, 5, ACNE INVERSA, FAMILIAL, 1, NEPHROTIC SYNDROME, TYPE 1, IMMUNODEFICIENCY 30, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, MECKEL SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, KINDLER SYNDROME, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, NEUTROPHIL IMMUNODEFICIENCY SYNDROME, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, MEIER-GORLIN SYNDROME 3, THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME, CHIME SYNDROME, ?MUCOPOLYSACCHARIDOSIS TYPE IX, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1, OBESITY, MORBID, DUE TO LEPTIN RECEPTOR DEFICIENCY, IMMUNODEFICIENCY 23, CILIARY DYSKINESIA, PRIMARY, 13, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, EPSTEIN SYNDROME, SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3, CILIARY DYSKINESIA, PRIMARY, 28, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, COMPLEMENT FACTOR I DEFICIENCY, IMMUNODEFICIENCY 24, BIOTINIDASE DEFICIENCY, KRABBE DISEASE, IMMUNODEFICIENCY 11, ?IMMUNODEFICIENCY 13, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA, ICHTHYOSIS WITH CONFETTI, LYMPHANGIOLEIOMYOMATOSIS, LYMPHANGIOLEIOMYOMATOSIS, SOMATIC, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, C4A DEFICIENCY, C1Q DEFICIENCY, ?N SYNDROME, SIALIC ACID STORAGE DISORDER, INFANTILE, HYALINE FIBROMATOSIS SYNDROME, C9 DEFICIENCY, MUCOPOLYSACCHARIDOSIS, MPS-III-A, IMMUNODEFICIENCY, COMMON VARIABLE, 12, CEROID LIPOFUSCINOSIS, NEURONAL, 3, GLYCOGEN STORAGE DISEASE IA, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, BRANCHIOOCULOFACIAL SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, GALLBLADDER DISEASE 1, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, HEMOGLOBIN H DISEASE, NONDELETIONAL, ADULT SYNDROME, LYMPHOPROLIFERATIVE SYNDROME 1, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, ICHTHYOSIS VULGARIS, RENAL-HEPATIC-PANCREATIC DYSPLASIA 1, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, CD8 DEFICIENCY, FAMILIAL, GRISCELLI SYNDROME, TYPE 2, CILIARY DYSKINESIA, PRIMARY, 17, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ?MICROPHTHALMIA, SYNDROMIC 1, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, 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, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, XERODERMA PIGMENTOSUM, GROUP D, CILIARY DYSKINESIA, PRIMARY, 3, WITH OR WITHOUT SITUS INVERSUS, GAUCHER DISEASE, TYPE II, CILIARY DYSKINESIA, PRIMARY, 2, IMMUNODEFICIENCY 10, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, IMMUNODEFICIENCY, COMMON VARIABLE, 10, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, GLYCOGEN STORAGE DISEASE IV, IMMUNODEFICIENCY 15, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, DIAMOND-BLACKFAN ANEMIA 5, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, WILSON DISEASE, MYASTHENIC SYNDROME, CONGENITAL, 10, COCKAYNE SYNDROME, TYPE B, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6, LYMPHEDEMA, HEREDITARY, IA, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1, GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY, ?TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE, TROPICAL CALCIFIC PANCREATITIS, {FIBROCALCULOUS PANCREATIC DIABETES, SUSCEPTIBILITY TO}, ZIMMERMANN-LABAND SYNDROME 1, POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS, FANCONI ANEMIA, COMPLEMENTATION GROUP E, FECHTNER SYNDROME, {HASHIMOTO THYROIDITIS}, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11, [BLOOD GROUP, RADIN], MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), TRICHORHINOPHALANGEAL SYNDROME, TYPE I, SCALP-EAR-NIPPLE SYNDROME, MULTIPLE SULFATASE DEFICIENCY, FUCOSIDOSIS, IMMUNODEFICIENCY 43, HYPERLIPOPROTEINEMIA, TYPE 1D, IMMUNODEFICIENCY 19, IMMUNODEFICIENCY DUE TO FICOLIN 3 DEFICIENCY, GLUTAMINE DEFICIENCY, CONGENITAL, SADDAN, OROTIC ACIDURIA, DIGEORGE SYNDROME, MEVALONIC ACIDURIA, SITOSTEROLEMIA, IMMUNODEFICIENCY 21, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, ALPORT SYNDROME, AUTOSOMAL DOMINANT, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, NIEMANN-PICK DISEASE TYPE C1, LEPRECHAUNISM, SPLENIC HYPOPLASIA, GREENBERG SKELETAL DYSPLASIA, INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 2, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, CILIARY DYSKINESIA, PRIMARY, 32, ?IMMUNODEFICIENCY 22, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, PORPHYRIA, CONGENITAL ERYTHROPOIETIC, BARTH SYNDROME, IMMUNODEFICIENCY 40, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, TRANSCOBALAMIN II DEFICIENCY, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, FILS SYNDROME, OSTEOPETROSIS, AUTOSOMAL DOMINANT 2, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, HYDROLETHALUS SYNDROME, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, HYPERLIPOPROTEINEMIA, TYPE IB, INFLAMMATORY BOWEL DISEASE 19, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, CRANIOOSTEOARTHROPATHY, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 1, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1, ?DIAMOND-BLACKFAN ANEMIA 11, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, GERODERMA OSTEODYSPLASTICUM, COMBINED SAP DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME, CHOPS SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 2, AUTOSOMAL DOMINANT, {PSORIASIS SUSCEPTIBILITY 1}, POLYCYTHEMIA VERA, SOMATIC, ROBERTS SYNDROME, KAPPA LIGHT CHAIN DEFICIENCY, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE, COHEN SYNDROME, AICARDI-GOUTIERES SYNDROME 3, XERODERMA PIGMENTOSUM, GROUP C, GLYCOGEN STORAGE DISEASE IXC, IMMUNODEFICIENCY 14, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, 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, VISCERAL MYOPATHY, IMMUNODEFICIENCY 8, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, GAUCHER DISEASE, TYPE III, CILIARY DYSKINESIA, PRIMARY, 10, VICI SYNDROME, COFFIN-SIRIS SYNDROME 2, IMMUNODEFICIENCY, COMMON VARIABLE, 7, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IA, MYOTONIC DYSTROPHY 2, THROMBOCYTOPENIC PURPURA, AUTOIMMUNE, BERGER DISEASE, NIEMANN-PICK DISEASE, TYPE B, TANGIER DISEASE, INTRINSIC FACTOR DEFICIENCY, PAPILLON-LEFEVRE SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, COMPLEMENT FACTOR H DEFICIENCY, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, NOONAN SYNDROME 3, C7 DEFICIENCY, 5-OXOPROLINASE DEFICIENCY, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, ?CRANIOECTODERMAL DYSPLASIA 4, CHILBLAIN LUPUS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ALPORT SYNDROME, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, COPROPORPHYRIA, HARDEROPORPHYRIA, AYME-GRIPP SYNDROME, 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, HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, DE SANCTIS-CACCHIONE SYNDROME, HETEROTAXY, VISCERAL, 2, AUTOSOMAL, AGAMMAGLOBULINEMIA 4, FAMILIAL MEDITERRANEAN FEVER, AD, MAY-HEGGLIN ANOMALY, MUCOPOLYSACCHARIDOSIS IH/S, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME, IMMUNOGLOBULIN A DEFICIENCY 2, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, CILIARY DYSKINESIA, PRIMARY, 9, WITH OR WITHOUT SITUS INVERSUS, 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIF, COWDEN SYNDROME 5, MENTAL RETARDATION, AUTOSOMAL DOMINANT 24, MASP2 DEFICIENCY, BONE MARROW FAILURE SYNDROME 2, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2, CILIARY DYSKINESIA, PRIMARY, 26, PSORIASIS 2, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, C1R/C1S DEFICIENCY, COMBINED, HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT, LEUKOCYTE ADHESION DEFICIENCY, ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE, HYPOMAGNESEMIA 3, RENAL, AICARDI-GOUTIERES SYNDROME 4, HERMANSKY-PUDLAK SYNDROME 1, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, POLYCYSTIC KIDNEY AND HEPATIC DISEASE, {PSORIASIS 15, PUSTULAR, SUSCEPTIBILITY TO}, APERT SYNDROME, CILIARY DYSKINESIA, PRIMARY, 29, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2, GLUTATHIONE SYNTHETASE DEFICIENCY, CILIARY DYSKINESIA, PRIMARY, 23, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME, RETINITIS PIGMENTOSA 71, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, CILIARY DYSKINESIA, PRIMARY, 19, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, {CELIAC DISEASE, SUSCEPTIBILITY TO}, C8 DEFICIENCY, TYPE I, HYPOPHOSPHATASIA, INFANTILE, MITOCHONDRIAL DNA DEPLETION SYNDROME 11, FRASER SYNDROME, BROWN-VIALETTO-VAN LAERE SYNDROME 1, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, MANNOSIDOSIS, BETA, ALSTROM SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SHORT SYNDROME, CILIARY DYSKINESIA, PRIMARY, 1, WITH OR WITHOUT SITUS INVERSUS, LYSINURIC PROTEIN INTOLERANCE, GRACILE BONE DYSPLASIA, GAUCHER DISEASE, TYPE I, HETEROTAXY, VISCERAL, 4, AUTOSOMAL, ?IMMUNODEFICIENCY 37, BLOOM SYNDROME, NEUROPATHY, HEREDITARY SENSORY, TYPE IF, ATELEIOTIC DWARFISM, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, PELGER-HUET ANOMALY, TRANSALDOLASE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, CILIARY DYSKINESIA, PRIMARY, 5, CARDIOFACIOCUTANEOUS SYNDROME, 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, VESICOURETERAL REFLUX 8, ACNE INVERSA, FAMILIAL, 2, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, MUCKLE-WELLS SYNDROME, [EOSINOPHIL PEROXIDASE DEFICIENCY], HYSTRIX-LIKE ICHTHYOSIS WITH DEAFNESS, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IB, CYSTINURIA, SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE, AGAMMAGLOBULINEMIA, X-LINKED 1, SYSTEMIC LUPUS ERYTHEMATOSUS 16, GLYCOGEN STORAGE DISEASE XII, IRAK4 DEFICIENCY, {SYSTEMIC LUPUS ERYTHEMATOUS, ASSOCIATION WITH SUSCEPTIBILITY TO, 6}, ACNE INVERSA, FAMILIAL, 3, IMMUNODEFICIENCY, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, CANDIDIASIS, FAMILIAL, 2, AUTOSOMAL RECESSIVE, RUBINSTEIN-TAYBI SYNDROME, OKT4 EPITOPE DEFICIENCY, BARDET-BIEDL SYNDROME 16, SMITH-LEMLI-OPITZ SYNDROME, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, MYXOMA, INTRACARDIAC, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, ?RENAL-HEPATIC-PANCREATIC DYSPLASIA 2, ?ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2, SULFITE OXIDASE DEFICIENCY, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, 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, FEINGOLD SYNDROME, ?IMMUNODEFICIENCY 16, RIGHT ATRIAL ISOMERISM, PYRUVATE KINASE DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2, SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], CILIARY DYSKINESIA, PRIMARY, 11, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, C1S DEFICIENCY, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, MUCOPOLYSACCHARIDOSIS II, GALACTOSE EPIMERASE DEFICIENCY, CANDIDIASIS, FAMILIAL, 4, AUTOSOMAL RECESSIVE, CITRULLINEMIA, ADULT-ONSET TYPE II, CILIARY DYSKINESIA, PRIMARY, 24, CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME, ?CANDIDIASIS, FAMILIAL, 8, IMMUNODEFICIENCY, COMMON VARIABLE, 5, CILIARY DYSKINESIA, PRIMARY, 15, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, KOOLEN-DE VRIES SYNDROME, KEUTEL SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2, GALACTOSIALIDOSIS, SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY, XERODERMA PIGMENTOSUM, GROUP E, DDB-NEGATIVE SUBTYPE, SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN TYPE, IVIC SYNDROME, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, TENORIO SYNDROME, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, ?WISKOTT-ALDRICH SYNDROME 2, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2, VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY, POLYARTERITIS NODOSA, CHILDHOOD-ONSET, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5, NIEMANN-PICK DISEASE, TYPE A, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, MENTAL RETARDATION, AUTOSOMAL DOMINANT 40, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC, HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINEMIA SYNDROME, GLYCOGEN STORAGE DISEASE II, NIEMANN-PICK DISEASE, TYPE C2, IMMUNODEFICIENCY 33, WHIM SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, ISOVALERIC ACIDEMIA, LI-FRAUMENI SYNDROME, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, AGAMMAGLOBULINEMIA 2, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, KNIEST DYSPLASIA, METHYLMALONIC ACIDURIA CBLB TYPE, COFFIN-SIRIS SYNDROME 1, BEAULIEU-BOYCOTT-INNES SYNDROME, XERODERMA PIGMENTOSUM, TYPE 1, LYMPHEDEMA, HEREDITARY, IC, SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, HYPERPARATHYROIDISM, NEONATAL, ATAXIA, POSTERIOR COLUMN, WITH RETINITIS PIGMENTOSA, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, CILIARY DYSKINESIA, PRIMARY, 27, LATHOSTEROLOSIS, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, {LEPROSY, SUSCEPTIBILITY TO}, CRYOHYDROCYTOSIS, SECKEL SYNDROME 9, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, POIKILODERMA WITH NEUTROPENIA, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, EHLERS-DANLOS SYNDROME, TYPE IV, C6 DEFICIENCY, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, AGAMMAGLOBULINEMIA 6, UROFACIAL SYNDROME 2, ANGIOEDEMA, HEREDITARY, TYPES I AND II, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 1, X-LINKED, HETEROTAXY, VISCERAL, 1, X-LINKED, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), {AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3}, FOLATE MALABSORPTION, HEREDITARY, PEELING SKIN SYNDROME 1, PROPERDIN DEFICIENCY, X-LINKED, GM1-GANGLIOSIDOSIS, TYPE II, SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY, DIAMOND-BLACKFAN ANEMIA 1, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, CILIARY DYSKINESIA, PRIMARY, 16, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, GRAY PLATELET SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 3, LYMPHOPROLIFERATIVE SYNDROME 2, MAST CELL DISEASE, OMENN SYNDROME, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, WISKOTT-ALDRICH SYNDROME, SPINAL MUSCULAR ATROPHY-1, {INFLAMMATORY BOWEL DISEASE 13}, CILIARY DYSKINESIA, PRIMARY, 22, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB, EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE, IMMUNODEFICIENCY 9, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, TRICHOHEPATOENTERIC SYNDROME 2, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, NIGHT BLINDNESS, CONGENITAL STATIONARY (COMPLETE), 1C, AUTOSOMAL RECESSIVE, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, KABUKI SYNDROME 1, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1, HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, SIALURIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, SPHEROCYTOSIS, TYPE 2

Associated genes: CA2, APOE, RPSA, MSH6, HBB, AMACR, ZMYND10, TSC2, BCKDHB, EPX, CC2D2A, LBR, TCF3, IGF2R, VSX1, COL3A1, RNASEH2A, SUOX, GUSB, GSS, TTC7A, PCYT1A, CLN3, NLRP12, LYZ, B2M, SLC17A5, SPINK1, RANBP2, ITGA3, ERCC6, H6PD, TRIM32, G6PC, MPL, TTC8, MS4A1, RPS19, APOC2, PMS2, NTRK1, HPSE2, CREBBP, DNASE1L3, HYAL1, PTEN, XIAP, FGFR3, APOA1, CDKN3, PTPN22, IRF5, FCN3, IDS, MLLT10, C2, CBS, BUB1B, CIITA, SKIV2L, ASAH1, IL17F, TAF6, BTD, CTSA, PIK3CD, GTF2H5, ORC6, CD27, HBA2, CBL, SMARCE1, NR1I3, TALDO1, NSUN2, JAK2, AP2S1, CLEC7A, CYP4F22, NKX2-1, ELOVL4, SGSH, CNTN5, MKKS, STEAP3, FCGR2B, KCTD1, ABCD4, NTF3, LPP, SH2D1A, FBXL4, ZIC3, TP63, TYK2, IGKC, GATA1, MGME1, RMRP, FANCE, CTNNB1, IL2RA, NRAS, IGLL1, ATOH7, CD151, SBDS, RFXANK, CHST14, SLC4A1, CEP290, C1R, IGHM, SPTLC2, LEP, PAPSS2, CFB, COLQ, RSPH4A, FLVCR1, DDR2, TAPBP, BLNK, RARA, NPHS1, CLPB, ABCB4, ARID1B, BBS7, ERCC8, RNU4ATAC, DNAH1, MS4A2, GNE, MMAA, GH1, XPC, SCGB1A1, CFP, NAA10, TICAM1, GJC2, BBS9, POLA1, PIGA, TNFSF11, MOGS, GIF, AICDA, MLF1, PAX5, TGM6, SLC46A1, HGSNAT, CHIC2, PIGL, DOCK8, PTPN11, LPL, CCDC39, DNAAF1, BCL10, STAT3, ERMAP, FLT3, EBP, HLA-B, SRCAP, COL6A1, PCCA, ALG1, DNAAF2, DCDC2, C1S, BBS1, BPGM, COL4A3, HNRNPA2B1, PHF11, THBS4, FCGR3A, SNRPN, HLA-DQB1, SLC7A9, RAB7A, CALR, RNF113A, CHAT, LIPA, CDSN, AP3B1, SARS2, THPO, IVD, ARID1A, SPTB, TTC21B, PAX4, TAP2, ACTG2, PEX5, HPGD, CCBE1, GPI, GNPTAB, GJB6, TREX1, KMT2A, TRAIP, TNFRSF13B, MMP1, MKS1, GP1BA, DYX1C1, STIM1, CD8A, ABCB1, PSEN1, DGUOK, CAPN5, SNX10, ALPL, CFHR5, COL11A2, TNXB, CCDC65, NCF4, CTPS1, MCCC2, IDUA, FGA, BAAT, DNASE1, CCL11, LRBA, MUC7, COL4A5, IKBKAP, USB1, DNAH8, NEK8, PKHD1, POLE, GALNS, SLC30A2, PRF1, CDC73, DNAI1, MEFV, FGG, FOXN1, CAPN3, ESCO2, CD79B, IL13, CLCN7, IL2RG, CD81, RAC2, SHOC2, TAL2, DOK7, DNAI2, MMP2, PLAU, HLA-C, TFAP2A, CYP7B1, XPA, HBA1, IL12B, FGB, PKLR, HAMP, MYCN, PTRF, CTSC, TTC37, GNS, CORO1A, CRIPT, CD3E, IL12RB1, AFF4, ST14, ZHX2, KMT2C, CARD9, CD247, SEMA3D, RHAG, DNAH11, MEN1, KDR, FAT4, CCDC28B, TAL1, WDPCP, NLRC4, FANCA, XDH, RB1, TNFRSF11A, STX11, EPG5, NFKBIL1, BRAF, AKR1D1, MALT1, RFX5, NCF1, BBS12, ADAM17, PDGFRL, MMAB, PSENEN, FLT4, SMAD9, CTNS, SLC29A3, SC5D, C6, TAZ, ABCG5, ITPR3, NFKB2, BMP2, COL4A4, ALOX5, KLHDC8B, SPINK5, GLUL, NDN, BBS10, AP1S3, PLEC, KANSL1, NPHP3, NAGLU, MUT, FRAS1, FAM111B, EGFR, SOX18, NCF2, CLDN16, IKBKB, CASP8, SH3GL1, VPS33B, RNASEH2C, STK4, MESP2, PIGR, PSTPIP1, HAX1, PSMB8, ADNP, WDR19, OSTM1, PRSS1, FREM2, FERMT3, KCNH1, MAF, NME8, UNC13D, GALE, POLH, KIT, BCR, SCYL1, AGPAT2, AIRE, DDX41, SH2B3, COL6A2, CHRNE, VPS45, SETX, IRGM, HAVCR1, TRAC, KRT1, JAGN1, AKT1, TGFB1, SLC39A4, PEPD, TIRAP, KMT2D, CARD11, C4B, CD79A, SPTLC1, STAT1, TSC1, TBCE, TCIRG1, TFR2, CHAMP1, PLG, TP53, BLM, DNMT1, SERAC1, NIPBL, TINF2, IL6, OFD1, PIEZO1, CEBPE, AGA, CTLA4, SLC3A1, TMEM67, STRA6, C5, MGP, EPOR, ITGAM, CCDC151, NLRP3, C10orf2, IL21, LMNA, ERCC6L2, C3AR1, SFTPA2, CD3D, C8A, ADRB2, TPI1, IFIH1, FAS, BRCA2, DNAAF3, IKBKG, GFI1, HEXB, ANK1, RSPH3, CYBA, ATP6V1B2, XPNPEP3, PMM2, NOD2, AK2, DKC1, LMNB2, DNAH5, RPGRIP1L, VPS13B, MANBA, OPLAH, PRG4, IL21R, ARSB, LRRC6, FANCM, NUMA1, PIK3CA, NPC1, SPAG1, MBTPS2, C1QC, IGSF3, FMO3, HK1, CCDC40, COL2A1, MUSK, CD4, SRD5A3, GRIP1, WDR34, GBE1, RUNX1, IL10, SCNN1G, FAM134B, ABCB11, SLC39A8, GPC3, IRAK3, PGM1, TLR3, SMN1, GFRA1, DCLRE1C, C9, TNF, GATA2, SCNN1A, EDA, WIPF1, RAI1, RFXAP, ABCA1, WHSC1L1, PLOD1, ICOS, ORAI1, GAA, MET, NFKBIA, ACP5, IRF8, SERPING1, C3, TLR2, TNFRSF1A, TMEM173, MLH1, RBP4, SLC25A13, SLC22A4, MLLT11, TBX1, INS, ABCC8, BSCL2, PCCB, DLL3, FCGR2A, NCSTN, SETBP1, MUC5B, SMPD1, KCNN4, C15orf41, OAS1, G6PC3, ABCG8, SDCCAG8, LMX1B, HLA-DRB1, IFNGR2, CARD14, GNA11, FANCD2, IL10RB, RAPSN, ARL6, SMARCAL1, DPYD, BRCA1, ITGB2, ATL3, SAMD9, CYBB, HYDIN, FOXC2, KLF1, RAB23, MNX1, ACKR1, FBN1, TBX21, FECH, COG4, SCN1A, ZNF750, DBT, MTAP, ISG15, TERT, HNF1A, DNAAF5, DDB2, ALMS1, ABCD3, CFH, CFTR, PTPRZ1, EHMT1, GPD1, FAH, BBS5, CCNO, UROS, PRKCD, IL4R, IL17RA, ATP8B1, PTGER2, WNT3, PHKG2, PMP22, AHNAK, JAK3, IGHMBP2, MAN2B1, MYH9, PDGFRA, CLDN1, WAS, RPL35A, HYLS1, FADD, CD244, RBCK1, DEAF1, BAX, NPM1, GBA, SP110, THOC6, DRC1, RPL26, LAMTOR2, HNMT, ETV6, CTRC, KRT10, SCGB3A2, SFTPC, OCLN, SLC2A1, ZAP70, NIPAL4, ARMC4, MPLKIP, COL7A1, C8B, ALG13, IER3IP1, CFC1, UNC93B1, DSG1, FUCA1, NEU1, HLCS, BBIP1, PICALM, CNBP, ZBTB24, RAG1, MYD88, TAP1, SLC35A1, ALDOA, RAB27A, MPO, IRF7, RSPH9, INSR, ACVR2B, FAM111A, MCIDAS, PRKAR1A, COG6, VANGL1, SLC35A2, BTK, DOCK2, OVOL2, COL6A3, CDKN2A, CCDC103, PRPS1, RAB3GAP2, NF1, MASP2, TRPM1, CXCR4, MPV17, TGM1, NOTCH1, EFEMP2, BBS2, ERCC2, UNG, WNT4, RSPH1, C7, CD40, VIPAS39, COL13A1, UMPS, KIF7, FLG, HLA-DQA1, DNMT3B, PDGFRB, PTCH1, SMARCA2, PRSS2, CHD7, CECR1, FBLN5, RBM8A, FGFR2, PAX6, PTPRC, NKX2-5, PLA2G7, TRAF3IP2, SCNN1B, CDAN1, CPOX, DNAL1, TERC, LZTFL1, XRCC4, BCKDHA, COPA, CLDN19, CCDC114, SLC52A3, FAT3, C4A, CD40LG, FANCG, SALL4, PIGM, FANCC, MPZ, SLC35C1, SLC25A15, CEBPA, NBN, TNFRSF4, LEPR, SLC7A7, ITK, FERMT1, CAV1, DTNBP1, SEC23B, SPATA5, IFNGR1, NUP214, TCN2, SFTPA1, UNC119, KCNJ11, IL7R, CFHR3, FTCD, BCS1L, CBFB, MECP2, MVK, MC2R, PADI4, LRRC8A, CASR, APC, GCK, MTUS1, TG, DPM1, FOXP3, KRT9, IL1RN, C1QA, KRAS, ELANE, PRKDC, TRNT1, IL36RN, IRAK4, CFI, TNFRSF13C, C1QB, PGM3, ZFAT, STXBP2, AXIN1, MAP2K2, C1GALT1C1, GPIHBP1, HLA-G, MMACHC, MCM4, SLC37A4, ATP7B, RNF125, SEMA3E, RAG2, LRIG2, ADA, NPC2, INPPL1, LMBRD1, POLR2F, PAH, SUMF1, ITCH, LCK, CSF3R, GORAB, FLNA, PSAP, MAGT1, GJB2, RNF168, DHCR7, CASP10, LYST, IL17RC, ATM, GLB1, C21orf59, GRHL2, NSD1, NFKB1, CFD, PRKACA, CD19, GALC, TRPS1, IFT172, IL10RA, ARHGAP26, MSH2, RPGR, PLCG2, NBEAL2, CD3G, ANTXR2, SGCG, FCGR2C, COX4I2, RTEL1, BBS4, RET, GDF1, PNP, HFE, TBXAS1, FASLG, MPDU1, CFHR1, SELP, MYH11, NFIX, PEX2, CR2, PIK3R1, HSD3B7, HPS1, RYR1, HFE2