AORTIC ANEURYSM, FAMILIAL THORACIC 7
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BLADDER CANCER, SOMATIC, INCLUDED
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BREAST CANCER, SUSCEPTIBILITY TO
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CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME
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CARDIOFACIOCUTANEOUS SYNDROME 3
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CARDIOFACIOCUTANEOUS SYNDROME 4
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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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COWDEN DISEASE 6
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CROUZON SYNDROME
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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
|
GLYCOGEN STORAGE DISEASE 9C (GSD9C)
|
GLYCOGEN STORAGE DISEASE IXC
|
HARTSFIELD SYNDROME
|
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
|
HYPOCHONDROPLASIA
|
HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA
|
HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO
|
HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SUSCEPTIBILITY
|
HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA
|
HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA, SUSCEPTIBILITY TO
|
LADD SYNDROME
|
LEUKEMIA, PHILADELPHIA CHROMOSOME-POSITIVE, RESISTANT TO IMATINIB
|
MALFORMATIONS
|
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME
|
MELANOMA, MALIGNANT, SOMATIC
|
MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA
|
MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA (MICPCH)
|
MENTAL RETARDATION, X-LINKED 30
|
MENTAL RETARDATION, X-LINKED, WITH NYSTAGMUS
|
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA
|
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB
|
MULTIPLE MYELOMA, SOMATIC, INCLUDED;;
|
NEPHRONOPHTHISIS 9 (NPHP9)
|
NEUROPATHY, HEREDITARY SENSORY, TYPE II
|
OGUCHI DISEASE 2
|
PANCREATIC CANCER, SOMATIC
|
PARKINSON DISEASE 8, AUTOSOMAL DOMINANT
|
PEUTZ-JEGHERS SYNDROME
|
PFEIFFER SYNDROME
|
PHEOCHROMOCYTOMA, INCLUDED
|
PHEOCHROMOCYTOMA, SOMATIC, IN
|
PROSTATE CANCER, PROGRESSION AND METASTASIS OF
|
RENAL AGENESIS
|
RETINITIS PIGMENTOSA 62
|
RETINITIS PIGMENTOSA 62 (RP62)
|
SADDAN DYSPLASIA
|
SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION, INCLUDED
|
SHORT RIB-POLYDACTYLY SYNDROME 2A (SRPS2A)
|
SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIA
|
SPERMATOCYTIC SEMINOMA, SOMATIC, INCLUDED
|
SPERMATOGENIC FAILURE 5
|
T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AUTOIMMUNITY, AND CARDIAC
|
TESTICULAR TUMOR, SOMATIC
|
THANATOPHORIC DYSPLASIA, TYPE I
|
THANATOPHORIC DYSPLASIA, TYPE I, INCLUDED
|
THANATOPHORIC DYSPLASIA, TYPE II
|
THYROID CARCINOMA, FAMILIAL MEDULLARY
|
THYROID CARCINOMA, FAMILIAL MEDULLARY, INCLUDED
|
THYROID CARCINOMA, SPORADIC MEDULLARY, INCLUDED;;
|
TO
|
VARIANT OF UNKNOWN SIGNIFICANCE
|