ABNORMALITY OF THE RESPIRATORY SYSTEM, HP:0002086

Associated diseases: ARTHROGRYPOSIS, DISTAL, TYPE 5, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8, HYPER-IGE RECURRENT INFECTION SYNDROME, PULMONARY ALVEOLAR MICROLITHIASIS, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4F, OTOPALATODIGITAL SYNDROME, TYPE II, ACHONDROPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8, THANATOPHORIC DYSPLASIA, TYPE I, CILIARY DYSKINESIA, PRIMARY, 1, WITH OR WITHOUT SITUS INVERSUS, PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT, PORPHYRIA, ACUTE INTERMITTENT, DUCHENNE MUSCULAR DYSTROPHY, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CILIARY DYSKINESIA, PRIMARY, 30, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, PONTOCEREBELLAR HYPOPLASIA, TYPE 1B, PULMONARY VENOOCCLUSIVE DISEASE 1, PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM, CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY, OPITZ GBBB SYNDROME, TYPE II, MYASTHENIC SYNDROME, CONGENITAL, 19, ICHTHYOSIS VULGARIS, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NEMALINE MYOPATHY 10, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J, AGNATHIA-OTOCEPHALY COMPLEX, RENAL TUBULAR DYSGENESIS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4, NATIVE AMERICAN MYOPATHY, IMMUNODEFICIENCY 35, INSOMNIA, FATAL FAMILIAL, FAZIO-LONDE DISEASE, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, CORNELIA DE LANGE SYNDROME 1, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, JOUBERT SYNDROME 5, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, LARSEN SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LIPOYLTRANSFERASE 1 DEFICIENCY, EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, IMMUNODEFICIENCY, COMMON VARIABLE, 10, MUCOPOLYSACCHARIDOSIS II, ?MARDEN-WALKER SYNDROME, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, SINGLETON-MERTEN SYNDROME 1, ATRIAL SEPTAL DEFECT 9, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), CILIARY DYSKINESIA, PRIMARY, 7, WITH OR WITHOUT SITUS INVERSUS, PRADER-WILLI SYNDROME, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19, MUCOPOLYSACCHARIDOSIS TYPE IIID, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, EPILEPSY, PYRIDOXINE-DEPENDENT, NASOPHARYNGEAL CARCINOMA, MYOPATHY, MYOFIBRILLAR, 5, MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT; MMIT, MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 9, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, PARAGANGLIOMAS 3, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3, KLEEFSTRA SYNDROME, NESTOR-GUILLERMO PROGERIA SYNDROME, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), ?COMPLEMENT FACTOR B DEFICIENCY, GM2-GANGLIOSIDOSIS, AB VARIANT, CILIARY DYSKINESIA, PRIMARY, 32, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY, COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, CARDIOMYOPATHY, HYPERTROPHIC, 15, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8, MICROPHTHALMIA, SYNDROMIC 9, EHLERS-DANLOS SYNDROME, TYPE VIIC, MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVERE, AGAMMAGLOBULINEMIA 1, CILIARY DYSKINESIA, PRIMARY, 6, CHOLESTERYL ESTER STORAGE DISEASE, WOLMAN DISEASE, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, GLYCOGEN STORAGE DISEASE IC, IMMUNODEFICIENCY, COMMON VARIABLE, 5, MEIER-GORLIN SYNDROME 2, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, HEMOCHROMATOSIS TYPE 1, OGDEN SYNDROME, CILIARY DYSKINESIA, PRIMARY, 14, CILIARY DYSKINESIA, PRIMARY, 18, TRIMETHYLAMINURIA, TUBEROUS SCLEROSIS-1, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, MYASTHENIC SYNDROME, CONGENITAL, 16, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, VAN MALDERGEM SYNDROME 2, PEROXISOME BIOGENESIS DISORDER 11B, ASPARTYLGLUCOSAMINURIA, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, SMITH-MAGENIS SYNDROME, PLEUROPULMONARY BLASTOMA, CPT DEFICIENCY, HEPATIC, TYPE II, AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY, MUSCULAR DYSTROPHY, RIGID SPINE, 1, MARSHALL-SMITH SYNDROME, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY, EHLERS-DANLOS SYNDROME, TYPE VI, IMMUNODEFICIENCY 9, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 4, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, RIGHT ATRIAL ISOMERISM, ?MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL, JOUBERT SYNDROME 23, AGAMMAGLOBULINEMIA 3, ROIFMAN SYNDROME, THROMBOTIC THROMBOCYTOPENIC PURPURA, FAMILIAL, ARTS SYNDROME, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, {PULMONARY DISEASE, CHRONIC OBSTRUCTIVE, SUSCEPTIBILITY TO}, COPD, RATE OF DECLINE OF LUNG FUNCTION IN, CILIARY DYSKINESIA, PRIMARY, 12, 2-METHYLBUTYRYLGLYCINURIA, RIDDLE SYNDROME, NETHERTON SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, IMMUNODEFICIENCY 20, MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS, GREENBERG SKELETAL DYSPLASIA, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, GAUCHER DISEASE, PERINATAL LETHAL, CILIARY DYSKINESIA, PRIMARY, 21, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4, CILIARY DYSKINESIA, PRIMARY, 25, ATELOSTEOGENESIS, TYPE I, MUIR-TORRE SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, FOCAL DERMAL HYPOPLASIA, CHIME SYNDROME, MYOTONIC DYSTROPHY 1, NIJMEGEN BREAKAGE SYNDROME, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH OR WITHOUT DEAFNESS, MELNICK-NEEDLES SYNDROME, PORPHYRIA, ACUTE HEPATIC, {LEAD POISONING, SUSCEPTIBILITY TO}, CILIARY DYSKINESIA, PRIMARY, 20, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, VACTERL ASSOCIATION, X-LINKED, AMYOTROPHIC LATERAL SCLEROSIS 19, MUCOPOLYSACCHARIDOSIS IS, MEIER-GORLIN SYNDROME 1, TRICHORHINOPHALANGEAL SYNDROME, TYPE I, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, FARBER LIPOGRANULOMATOSIS, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, HYPOPHOSPHATASIA, INFANTILE, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, FAMILIAL MEDITERRANEAN FEVER, AR, MUCOLIPIDOSIS II ALPHA/BETA, JOUBERT SYNDROME 20, RENAL ADYSPLASIA, NEUROPATHY, RECURRENT, WITH PRESSURE PALSIES, PROPIONICACIDEMIA, PITT-HOPKINS SYNDROME, SPINAL MUSCULAR ATROPHY-2, ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME, PULMONARY HYPERTENSION, PRIMARY, 2, IMMUNODEFICIENCY WITH HYPER IGM, TYPE 5, ?CRANIOECTODERMAL DYSPLASIA 4, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, CEREBROTENDINOUS XANTHOMATOSIS, FUCOSIDOSIS, ATAXIA-TELANGIECTASIA, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5, OMODYSPLASIA 1, NEPHRONOPHTHISIS 2, INFANTILE, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, NEMALINE MYOPATHY 5, AMISH TYPE, CROUZON SYNDROME, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME-2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1, DYSKERATOSIS CONGENITA, X-LINKED, VELOCARDIOFACIAL SYNDROME, ?RENAL HYPODYSPLASIA/APLASIA 2, PRIMARY PULMONARY HYPERTENSION, IMMUNODEFICIENCY 19, MARTSOLF SYNDROME, PSEUDOHYPOALDOSTERONISM, TYPE I, RHEUMATOID ARTHRITIS, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1, SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS, INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 1, {PNEUMOCOCCAL DISEASE, INVASIVE, PROTECTION AGAINST}, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, MYOPATHY, MYOFIBRILLAR, 1, GELEOPHYSIC DYSPLASIA 1, ACHONDROGENESIS IB, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, MUCOPOLYSACCHARIDOSIS IH, OPSISMODYSPLASIA, HERMANSKY-PUDLAK SYNDROME 2, VAN DEN ENDE-GUPTA SYNDROME, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, DIASTROPHIC DYSPLASIA, DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5, IMMUNODEFICIENCY 36, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, MUCOPOLYSACCHARIDOSIS IVA, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, SHWACHMAN-DIAMOND SYNDROME, PROLIDASE DEFICIENCY, MECKEL SYNDROME 1, ?ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2, MUSCULAR DYSTROPHY, CONGENITAL, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, MYASTHENIC SYNDROME, CONGENITAL, 5, NEPHROTIC SYNDROME, TYPE 1, COMMON VARIABLE IMMUNODEFICIENCY 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, [HEX A PSEUDODEFICIENCY], GM2-GANGLIOSIDOSIS, SEVERAL FORMS, TAY-SACHS DISEASE, PULMONARY HYPERTENSION, PRIMARY, 4, MENTAL RETARDATION, AUTOSOMAL DOMINANT 40, FRONTOTEMPORAL LOBAR DEGENERATION, TARDBP-RELATED, AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FTD, ?MYASTHENIC SYNDROME, CONGENITAL, 18, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, IMMUNODEFICIENCY 23, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F, CILIARY DYSKINESIA, PRIMARY, 13, OSTEOGENESIS IMPERFECTA, TYPE VII, ALAGILLE SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, SED CONGENITA, PULMONARY HYPERTENSION, PRIMARY, 3, CILIARY DYSKINESIA, PRIMARY, 28, NEU-LAXOVA SYNDROME 1, KRABBE DISEASE, ATYPICAL, BIOTINIDASE DEFICIENCY, IMMUNODEFICIENCY 11, CHOPS SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, LYMPHANGIOLEIOMYOMATOSIS, LYMPHANGIOLEIOMYOMATOSIS, SOMATIC, CEREBELLOFACIODENTAL SYNDROME, BLOOM SYNDROME, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, MUCOPOLYSACCHARIDOSIS, MPS-III-A, CILIARY DYSKINESIA, PRIMARY, 26, ESCOBAR SYNDROME, GELEOPHYSIC DYSPLASIA 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), COMPLEMENT FACTOR I DEFICIENCY, ULNAR-MAMMARY SYNDROME, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2, RENAL-HEPATIC-PANCREATIC DYSPLASIA 1, ?HYDROXYKYNURENINURIA, JOUBERT SYNDROME 6, HYPEREKPLEXIA HEREDITARY, TUMOR PREDISPOSITION SYNDROME, CILIARY DYSKINESIA, PRIMARY, 17, ?MICROPHTHALMIA, SYNDROMIC 1, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, CPT II DEFICIENCY, LETHAL NEONATAL, ARTERIAL TORTUOSITY SYNDROME, CILIARY DYSKINESIA, PRIMARY, 3, WITH OR WITHOUT SITUS INVERSUS, GAUCHER DISEASE, TYPE II, LOEYS-DIETZ SYNDROME 4, CEROID LIPOFUSCINOSIS, NEURONAL, 10, CILIARY DYSKINESIA, PRIMARY, 2, PULMONARY VENOOCCLUSIVE DISEASE 2, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, VENTRICULAR SEPTAL DEFECT 3, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, IMMUNODEFICIENCY 15, ?MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY, SEIZURES, BENIGN FAMILIAL INFANTILE, 3, SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, STAR SYNDROME, LONG QT SYNDROME 13, BROWN-VIALETTO-VAN LAERE SYNDROME 2, MYASTHENIC SYNDROME, CONGENITAL, 10, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ANGIOEDEMA, HEREDITARY, TYPE III, ?OSTEOGENESIS IMPERFECTA, TYPE X, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, NEMALINE MYOPATHY 8, AUTOSOMAL RECESSIVE, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, METATROPIC DYSPLASIA, KAUFMAN OCULOCEREBROFACIAL SYNDROME, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2, MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), LOEYS-DIETZ SYNDROME 2, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, PONTOCEREBELLAR HYPOPLASIA, TYPE 6, IMMUNODEFICIENCY DUE TO FICOLIN 3 DEFICIENCY, GLUTAMINE DEFICIENCY, CONGENITAL, SADDAN, SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), PNEUMOTHORAX, PRIMARY SPONTANEOUS, OSTEOGENESIS IMPERFECTA, TYPE III, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY, THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY, INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 2, CD8 DEFICIENCY, FAMILIAL, ?IMMUNODEFICIENCY 22, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, FRONTOMETAPHYSEAL DYSPLASIA, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, CENTRONUCLEAR MYOPATHY 5, YUNIS-VARON SYNDROME, FILS SYNDROME, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, HYDROLETHALUS SYNDROME, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, AURICULOCONDYLAR SYNDROME 2, MICROPHTHALMIA, SYNDROMIC 12, MECKEL SYNDROME 6, BETHLEM MYOPATHY 1, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, DYSAUTONOMIA, FAMILIAL, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS, SERKAL SYNDROME, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME, HERMANSKY-PUDLAK SYNDROME 4, BEARE-STEVENSON CUTIS GYRATA SYNDROME, 3-M SYNDROME 1, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26, TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE, COHEN SYNDROME, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2, OSTEOGENESIS IMPERFECTA, TYPE II, IMMUNODEFICIENCY 14, METHYLMALONIC ACIDURIA CBLB TYPE, MYOPATHY, MYOFIBRILLAR, 6, ?TETRA-AMELIA SYNDROME, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, CILIARY DYSKINESIA, PRIMARY, 10, SMALL CELL CANCER OF THE LUNG, SOMATIC, VICI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 7, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, WISKOTT-ALDRICH SYNDROME, MUCOPOLYSACCHARIDOSIS IH/S, NIEMANN-PICK DISEASE, TYPE B, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, JOUBERT SYNDROME 21, ?CHARGE SYNDROME, CHARGE SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, ATRIAL SEPTAL DEFECT 7, WITH OR WITHOUT AV CONDUCTION DEFECTS, ALAGILLE SYNDROME 2, ?IMMUNODEFICIENCY 13, IMMUNODEFICIENCY, COMMON VARIABLE, 2, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, JOUBERT SYNDROME-3, DIAMOND-BLACKFAN ANEMIA 10, MEIER-GORLIN SYNDROME 4, PELIZAEUS-MERZBACHER DISEASE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, AMYOTROPHIC LATERAL SCLEROSIS 17, LOEYS-DIETZ SYNDROME 1, AMYOTROPHIC LATERAL SCLEROSIS 21, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, COPROPORPHYRIA, HARDEROPORPHYRIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIJ, HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE, PARAMYOTONIA CONGENITA, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, SENGERS SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, AGAMMAGLOBULINEMIA 4, MCKUSICK-KAUFMAN SYNDROME, FAMILIAL MEDITERRANEAN FEVER, AD, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, IMMUNOGLOBULIN A DEFICIENCY 2, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, CILIARY DYSKINESIA, PRIMARY, 9, WITH OR WITHOUT SITUS INVERSUS, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, D-2-HYDROXYGLUTARIC ACIDURIA, HYPEROXALURIA, PRIMARY, TYPE 1, MYHRE SYNDROME, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, MASP2 DEFICIENCY, CUTIS LAXA, AD, HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, ATRIOVENTRICULAR SEPTAL DEFECT, PARTIAL, WITH HETEROTAXY SYNDROME, {ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2}, C1R/C1S DEFICIENCY, COMBINED, ?MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL, PALLISTER-HALL SYNDROME, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, POLYCYSTIC KIDNEY AND HEPATIC DISEASE, APERT SYNDROME, CILIARY DYSKINESIA, PRIMARY, 29, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, IMMUNODEFICIENCY, COMMON VARIABLE, 12, CILIARY DYSKINESIA, PRIMARY, 23, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, CILIARY DYSKINESIA, PRIMARY, 19, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, NEMALINE MYOPATHY 9, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, THANATOPHORIC DYSPLASIA, TYPE II, HETEROTAXY, VISCERAL, 5, MITOCHONDRIAL DNA DEPLETION SYNDROME 11, FRASER SYNDROME, BROWN-VIALETTO-VAN LAERE SYNDROME 1, MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE, ALSTROM SYNDROME, {RENAL DYSPLASIA, CYSTIC, SUSCEPTIBILITY TO}, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, LYSINURIC PROTEIN INTOLERANCE, GAUCHER DISEASE, TYPE I, CHONDRODYSPLASIA, BLOMSTRAND TYPE, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, CEREBROCOSTOMANDIBULAR SYNDROME, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, INTERSTITIAL LUNG AND LIVER DISEASE, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, PARAGANGLIOMAS 2, TRANSALDOLASE DEFICIENCY, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, CILIARY DYSKINESIA, PRIMARY, 5, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, MYOPATHY, MYOFIBRILLAR, 2, MYOPATHY, TUBULAR AGGREGATE, 1, HERMANSKY-PUDLAK SYNDROME 1, COENZYME Q10 DEFICIENCY, PRIMARY, 7, JOUBERT SYNDROME 17, SUPRAVALVAR AORTIC STENOSIS, LEFT VENTRICULAR NONCOMPACTION 5, CARDIOMYOPATHY, DILATED, 1S, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, IMMUNODEFICIENCY, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, DIAPHANOSPONDYLODYSOSTOSIS, FANCONI ANEMIA, COMPLEMENTATION GROUP B, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, BARDET-BIEDL SYNDROME 16, SMITH-LEMLI-OPITZ SYNDROME, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4, SUCCINYL COA:3-OXOACID COA TRANSFERASE DEFICIENCY, LEUKODYSTROPHY, HYPOMYELINATING, 4, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, BIRT-HOGG-DUBE SYNDROME, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, VLCAD DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 31, XIA-GIBBS SYNDROME, DESMOSTEROLOSIS, ?RENAL-HEPATIC-PANCREATIC DYSPLASIA 2, PERRY SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), FEINGOLD SYNDROME, MOWAT-WILSON SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2R, METHEMOGLOBINEMIA, TYPE IV, RUBINSTEIN-TAYBI SYNDROME, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3, MEIER-GORLIN SYNDROME 3, MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY, CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, CILIARY DYSKINESIA, PRIMARY, 11, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, JOUBERT SYNDROME 2, TRIFUNCTIONAL PROTEIN DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, CILIARY DYSKINESIA, PRIMARY, 24, PITT-HOPKINS-LIKE SYNDROME 2, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), CILIARY DYSKINESIA, PRIMARY, 15, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, KEUTEL SYNDROME, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN TYPE, VAN MALDERGEM SYNDROME 1, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, BAMFORTH-LAZARUS SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, TENORIO SYNDROME, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2, OSTEOGLOPHONIC DYSPLASIA, NIEMANN-PICK DISEASE, TYPE A, WIEACKER-WOLFF SYNDROME, SHPRINTZEN-GOLDBERG SYNDROME, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC, GLYCINE ENCEPHALOPATHY, GLYCOGEN STORAGE DISEASE II, NIEMANN-PICK DISEASE, TYPE C2, WHIM SYNDROME, LI-FRAUMENI SYNDROME, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, AGAMMAGLOBULINEMIA 2, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, IMMUNODEFICIENCY, COMMON VARIABLE, 6, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, ?MYOSCLEROSIS, CONGENITAL, AURICULOCONDYLAR SYNDROME 1, KNIEST DYSPLASIA, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, COFFIN-SIRIS SYNDROME 1, RAINE SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, HYPEREKPLEXIA 3, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 11 WITH MILD PALMOPLANTAR KERATODERMA AND WOOLLY HAIR, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 11, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, CRANIOECTODERMAL DYSPLASIA 3, GENITOPATELLAR SYNDROME, SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE, HYPERPARATHYROIDISM, NEONATAL, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, {APLASTIC ANEMIA}, CILIARY DYSKINESIA, PRIMARY, 27, CHILD SYNDROME, IMMUNODEFICIENCY 8, SECKEL SYNDROME 9, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, POIKILODERMA WITH NEUTROPENIA, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ENCEPHALOPATHY, NEONATAL SEVERE, FANCONI ANEMIA, COMPLEMENTATION GROUP L, EHLERS-DANLOS SYNDROME, TYPE IV, SCHAAF-YANG SYNDROME, COLD-INDUCED SWEATING SYNDROME 1, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, ANGIOEDEMA, HEREDITARY, TYPES I AND II, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, CARDIOMYOPATHY, HYPERTROPHIC, 17, AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE, PEELING SKIN SYNDROME 1, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2, SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, CILIARY DYSKINESIA, PRIMARY, 16, COENZYME Q10 DEFICIENCY, PRIMARY, 2, OPITZ GBBB SYNDROME, TYPE I, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, IMMUNODEFICIENCY, COMMON VARIABLE, 3, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, OMENN SYNDROME, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, SPINAL MUSCULAR ATROPHY-1, CILIARY DYSKINESIA, PRIMARY, 22, EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1, HYPERAMMONEMIA DUE TO CARBONIC ANHYDRASE VA DEFICIENCY, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, ASPARAGINE SYNTHETASE DEFICIENCY, ATELOSTEOGENESIS II, DE LA CHAPELLE DYSPLASIA, CODAS SYNDROME, KABUKI SYNDROME 1, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, SIALURIA, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, CYANOSIS, TRANSIENT NEONATAL, AGAMMAGLOBULINEMIA 6

Associated genes: DCHS1, ADAMTS13, TMEM216, FGFR1, PROS1, SOD1, PRRX1, CC2D2A, LBR, CIITA, COL3A1, TYK2, SFTPA2, LYRM7, SDHA, VMA21, UBA1, NSDHL, KCNH2, ZMYND10, TMEM237, DNAAF1, ENG, RANBP2, ITGA3, ERCC6, NAGS, FAM58A, APOPT1, MS4A1, DNAAF5, POR, CYB5R3, DNAI2, CREBBP, LIPT1, KMT2C, TRMT5, ETFDH, JPH2, SCN4A, F13A1, SIK1, ERBB3, MEGF10, NDUFAF3, NALCN, PTPN22, IRF5, LONP1, FCN3, CD79A, DNAAF3, CHAMP1, ALDH7A1, CCDC114, DAG1, CCDC151, KLHL40, ASAH1, MT-ND6, TAF6, BTD, PIK3CD, AMER1, ALAD, AIFM1, CBL, SMARCE1, AHDC1, CCND1, TALDO1, JAK2, GPC6, EFTUD2, SUCLA2, SPEG, SGSH, MKKS, HSPD1, FCGR2B, ABCD4, RYR1, TNNT2, SH2D1A, ADAMTSL2, FOXE1, NDUFS7, MT-CO1, CAV3, BANF1, LMOD3, MGME1, MT-TE, IL2RA, CHST3, IGLL1, NDUFA12, GNPTAB, CHST14, CEP290, NDUFAF2, TPM2, CRTAP, ASNS, IARS2, LEP, ICOS, CFB, NARS2, COLQ, GLDC, HES7, TCTN1, NDUFA2, INPPL1, BLNK, LRPPRC, NPHS1, ARID1B, COX15, BBS7, SCN2A, UNC119, GLI3, CSF2RA, DNAH1, PEX13, SCGB3A2, MS4A2, ORC1, GNE, MMAA, TSFM, ECHS1, HAMP, SCGB1A1, HAVCR1, EIF4A3, MTM1, BBS9, POLA1, HMBS, DPM1, SLC6A5, TNFRSF11A, CYBB, SEPN1, ACADVL, HABP2, LAMA2, DOCK8, COL5A2, CXCR4, CCDC39, SPINK1, OXCT1, NDUFAF5, DMPK, EPG5, MT-CO2, D2HGDH, EBP, RFXANK, COL6A1, PCCA, DST, DNAAF2, FKTN, BBS1, FKRP, FLG, PHF11, ZMPSTE24, BDNF, CALR, AMT, CHAT, BRAT1, KAT6A, POMK, FANCL, EGFR, DHCR24, COX7B, HPS4, EXOC8, BMPR2, GM2A, PCK1, NOP10, PEX5, NDUFS2, CCBE1, AGK, RPS26, TREX1, TSPYL1, TRAIP, TNFRSF13B, LRRC6, MKS1, DYX1C1, MFN2, BBS12, SEMA3E, RAI1, COL11A2, CCDC65, TTC8, FCGR3A, TSR2, RNU4ATAC, GJA1, G6PC3, LIAS, MYH7, NDUFS4, DNASE1, SLC25A1, USB1, MT-ATP6, NEK8, DES, SPAG1, MT-CO3, PKHD1, POLE, GALNS, NDUFAF4, JAG1, MEFV, TERC, ERBB2, PET100, CD79B, AARS2, IL2RG, CUL7, SF3B4, TGFBR2, FIG4, SOX9, RPS28, TGFB2, SLC26A2, SERPINA1, NDUFAF1, DPAGT1, TRPV4, TMEM231, NOTCH1, MYCN, COX6B1, GNS, CORO1A, CYB5A, CCDC40, CD3E, CTRC, SNRPN, CFL2, BAP1, AFF4, SUCLG1, EXOSC8, RASSF1, TBX21, DLEC1, CRYAB, PTH1R, EDN3, NRAS, DNAH11, KAT6B, SLC25A3, FGFR3, GDNF, STAC3, SPECC1L, GDF1, WDPCP, ACTA2, RB1, AICDA, BOLA3, GPHN, RARB, BRAF, KCNK3, SNAP25, PIEZO2, UBE3B, RFX5, NCF1, STIM1, GLRA1, ALPL, ITGA8, MMAB, KCNJ5, DNAJB6, SMAD9, F12, SNIP1, DSC2, GMPPB, RIN2, INVS, NFKB2, BMP2, TMEM70, SLC52A2, ALOX5, SPINK5, GLUL, NDN, TRIM2, SCN4B, PLP1, NPHP3, ASCL1, NAGLU, PARK2, FRAS1, LIPA, SOX18, NCF2, IKBKB, CASP8, HMOX1, CDSN, FBN2, MESP2, CCDC28B, SLC2A10, SARS2, FOXRED1, PGM3, ERBB4, VPS13B, FREM2, COQ4, IRF1, NME8, SLC5A7, NFKBIL1, MT-ND3, NDUFV1, PEX1, SH2B3, COL6A2, CHRNE, C21orf59, NODAL, HYDIN, KRT8, SLC12A6, GTF2H5, ZC4H2, RFT1, TGFB1, PEPD, TIRAP, PIP5K1C, KMT2D, CARD11, IDS, STAT1, IFT43, TSC1, ZBTB24, TFR2, KCNJ8, NOTCH2, PLG, ETFA, CYP2A6, NIPBL, STAT5B, TAP2, WDR60, PIK3R1, OFD1, COG4, AGA, CTLA4, KIF1BP, TMEM67, STRA6, MGP, EPOR, SLC25A20, HSPG2, FCGR2A, SKI, SYNE2, GPD1L, PLCB4, DICER1, LMNA, F2, CD3D, ADRB2, DNA2, TPI1, SDHC, IFIH1, CYP27A1, IKBKG, TCTN2, NRXN1, RSPH3, CAV1, NDUFA1, AGT, GNAI3, MOGS, MTHFR, DKC1, MCM4, WDR35, DNAH5, RPGRIP1L, BTK, KMT2A, ZEB2, IGHMBP2, MAP3K8, IL21R, SLC37A4, FBP1, MMP1, PLEKHG5, COX8A, PIK3CA, LTBP4, BMPER, DNAI1, SBDS, FMO3, PRKAG2, COL2A1, MXRA5, CTSD, MUSK, NUBPL, ACTA1, VRK1, GRIP1, PLEC, IL10, SCNN1G, NDUFAF6, CDKL5, ARMC4, SURF1, PGM1, CD8A, SMN1, PARN, DCLRE1C, NR1I3, TNF, IL21, ACVRL1, SCNN1A, EDA, HEXA, SCARF2, COL1A2, RFXAP, HADHA, PLOD1, PROC, ORAI1, HGSNAT, CRLF1, NFKBIA, ACP5, MPC1, TNNT1, TMEM173, MLH1, NDUFA9, NKX2-1, COX14, WAS, TBX1, PAM16, PCCB, DLL3, KCNA5, DNAH8, YARS2, MUC5B, SMPD1, TNPO3, PRSS1, KIAA0586, AGTR1, SDHD, SDCCAG8, HLA-DRB1, NEFH, CNTN1, VHL, BBS4, BCS1L, SLC34A2, NAA10, LTBP2, CYBA, PSAP, ADAMTS2, FHL1, MTFMT, ATP5A1, PHGDH, DCTN1, CHMP2B, SCN1A, ORC4, EDN1, TERT, TTN, ACADSB, PTEN, ALMS1, PDSS1, LZTFL1, FANCB, COX10, CHRND, STAT3, EHMT1, AHI1, SERPINC1, JAGN1, CCNO, KCNQ1, COL12A1, ADGRG6, SERPING1, DHCR7, IL4R, SLC22A4, PTGER2, FAT4, ABCA3, PMP22, JAK3, AP3B1, PDHA1, UPK3A, ACVR1, NEK1, TCF4, HYLS1, FADD, LRBA, IL13, SCN5A, NDUFA10, WDR19, GBA, FASTKD2, GATA6, DRC1, LAMTOR2, HNMT, HRAS, POLG, NDUFS6, SFTPB, SFTPC, SERPINF2, ZAP70, BAG3, MPLKIP, TINF2, FLNB, IER3IP1, SDHAF2, ISCU, FUCA1, HLCS, CD244, BBIP1, FAM20C, COL1A1, MPZ, PRPH, CHRNG, SLC52A3, RAG1, NDUFA11, PIGT, DNM2, CDT1, MID1, TAP1, GLB1, TBX3, RNASEH1, NBN, RSPH9, SCO1, COL5A1, MCIDAS, STT3B, DSG1, ELN, DDR2, TK2, COL6A3, CDKN2A, CCDC103, PRPS1, NDUFB3, RAB3GAP2, NCF4, MASP2, PEX7, SCO2, NDUFS8, IDUA, COX20, NDUFV2, PIGL, EFEMP2, BBS2, ERCC2, UNG, WNT4, RSPH1, SMAD4, BBS5, COL13A1, CPT2, KIF7, BLM, DNMT3B, ACE, PRSS2, CHD7, FBLN5, TNFRSF13C, FGFR2, NKX2-5, PLA2G7, SCNN1B, CPOX, DNAL1, TPM3, VCL, TARDBP, AGXT, LIFR, C1R, COPA, KRT18, IKBKAP, THPO, AGRN, PRX, IGHM, ELOVL4, ZIC3, WNT3, COX4I2, TGFBR1, SLC35C1, ORC6, CD81, RSPH4A, GDAP1, POMT2, ARL6, SLC7A7, NFIX, KLHL41, TRIM32, DTNBP1, NFU1, TECPR2, MATR3, ARHGAP31, SFTPA1, RET, REN, CCL11, CSF2RB, TTC21B, INPP5E, SNRPB, KYNU, PURA, CHRNB1, MECP2, RAPSN, CSPP1, PADI4, DOK7, CASR, FOXF1, DMD, CHRNA1, TSC2, BBS10, FGF20, IL1RN, MUC7, EIF2AK4, KRAS, HADHB, PRKDC, NDUFS1, HBG2, MRPL3, IRAK4, CFI, C5orf42, FASLG, PHOX2B, CEP120, CRELD1, HLA-G, TP53, MAGEL2, ARSB, RNF125, RAG2, WDR34, FLCN, ADA, NPC2, TAPBP, GAA, LYRM4, RUNX2, SELP, LCK, GLE1, FLNA, BIN1, RNF168, FLNC, PRNP, CSF2RAY, ATM, SPG11, BRF1, NDUFB9, ETFB, NFKB1, NEB, GRHL2, BICC1, CD19, TRPS1, SERPINH1, CEP57, MSH2, RPGR, PLCG2, CD3G, MARS, SGCG, GLA, CA5A, PDGFRA, RTEL1, MT-ND5, TACO1, FBN1, GPC3, ARX, PNP, HFE, PPP2R1B, EXOSC3, RARS2, GCSH, NHP2, CFTR, MYH11, MT-ND1, NDUFS3, CR2, HFE2, HPS1, PORCN, CACNA1D, SLC22A18