ADENOCARCINOMA OF LUNG, SOMATIC
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AORTIC ANEURYSM, FAMILIAL THORACIC 7
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BREAST CANCER, SUSCEPTIBILITY TO
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CARDIOFACIOCUTANEOUS SYNDROME 1
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CARDIOFACIOCUTANEOUS SYNDROME 3
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CARDIOFACIOCUTANEOUS SYNDROME 4
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CATARACT 6, AGE-RELATED CORTICAL
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CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE
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CHRONIC MYELOID LEUKEMIA, RESISTANT TO IMATINIB
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COFFIN-LOWRY SYNDROME
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COLON CANCER, SOMATIC
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COLORECTAL CANCER, SOMATIC
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COLORECTAL CANCER, SOMATIC, INCLUDED;;
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COWDEN DISEASE 6
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DIABETES MELLITUS, TYPE II
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ENDOCRINE-CEREBROOSTEODYSPLASIA
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EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
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EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 (EIEE2)
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FG SYNDROME 4
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GLYCOGEN STORAGE DISEASE 9C (GSD9C)
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GLYCOGEN STORAGE DISEASE IXC
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HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
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IRAK4 DEFICIENCY
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LEUKEMIA, PHILADELPHIA CHROMOSOME-POSITIVE, RESISTANT TO IMATINIB
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LYMPHOMA, NON-HODGKIN, SOMATIC
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LYMPHOPROLIFERATIVE SYNDROME 1
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MALFORMATIONS
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MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME
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MELANOMA, MALIGNANT, SOMATIC
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MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA
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MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA (MICPCH)
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MENTAL RETARDATION, X-LINKED 30
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MENTAL RETARDATION, X-LINKED, WITH NYSTAGMUS
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MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA
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MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB
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NEPHRONOPHTHISIS 9 (NPHP9)
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NEUROPATHY, HEREDITARY SENSORY, TYPE II
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NOONAN SYNDROME 7
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OGUCHI DISEASE 2
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PANCREATIC CANCER, SOMATIC
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PEUTZ-JEGHERS SYNDROME
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PHEOCHROMOCYTOMA, INCLUDED
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PHEOCHROMOCYTOMA, SOMATIC, IN
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RENAL AGENESIS
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RETINITIS PIGMENTOSA 62
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RETINITIS PIGMENTOSA 62 (RP62)
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SHORT RIB-POLYDACTYLY SYNDROME 2A (SRPS2A)
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SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIA
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SPERMATOGENIC FAILURE 5
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T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AUTOIMMUNITY, AND CARDIAC
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TESTICULAR TUMOR, SOMATIC
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THYROID CARCINOMA, FAMILIAL MEDULLARY
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THYROID CARCINOMA, FAMILIAL MEDULLARY, INCLUDED
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THYROID CARCINOMA, FOLLICULAR, SOMATIC, INCLUDED
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THYROID CARCINOMA, PAPILLARY, SOMATIC, INCLUDED;;|
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THYROID CARCINOMA, SPORADIC MEDULLARY, INCLUDED;;
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VARIANT OF UNKNOWN SIGNIFICANCE
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