ADENOCARCINOMA OF LUNG, SOMATIC
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ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 2
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AMYOTROPHIC LATERAL SCLEROSIS 19
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AORTIC ANEURYSM, FAMILIAL THORACIC 7
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BLADDER CANCER, SOMATIC, INCLUDED
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BRACHYDACTYLY, TYPE A2
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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 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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CEREBRAL INFARCTION, SUSCEPTIBILITY TO
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CHRONIC MYELOID LEUKEMIA, RESISTANT TO IMATINIB
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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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CROUZON SYNDROME
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DEFICIENCY
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DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS
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DIABETES MELLITUS, NONINSULIN-DEPENDENT
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DIABETES MELLITUS, TYPE II
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ENDOCRINE-CEREBROOSTEODYSPLASIA
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ENDOCRINE-CEREBROOSTEODYSPLASIA (ECO)
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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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FIBRODYSPLASIA OSSIFICANS PROGRESSIVA
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GERM CELL TUMOR, SOMATIC
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GLYCOGEN STORAGE DISEASE IXC
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HARTSFIELD SYNDROME
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HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC
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HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC
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HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
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HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5
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HYPOCHONDROPLASIA
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HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA
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HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO
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HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SUSCEPTIBILITY
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HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA
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HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA, SUSCEPTIBILITY TO
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INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS
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INSULIN RESISTANCE
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INSULIN RESISTANCE, INCLUDED
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IRAK4 DEFICIENCY
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LADD SYNDROME
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LEUKEMIA, ACUTE MYELOID
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LEUKEMIA, PHILADELPHIA CHROMOSOME-POSITIVE, RESISTANT TO IMATINIB
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LOEYS-DIETZ SYNDROME, TYPE 1A
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LOEYS-DIETZ SYNDROME, TYPE 2A
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LOEYS-DIETZ SYNDROME, TYPE 2A, INCLUDED
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LYMPHEDEMA, HEREDITARY, I
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LYMPHEDEMA, HEREDITARY, IA
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LYMPHOMA, NON-HODGKIN, SOMATIC
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LYMPHOPROLIFERATIVE SYNDROME 1
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MALFORMATIONS
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MAST CELL DISEASE, SYSTEMIC
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MAST CELL LEUKEMIA
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MASTOCYTOSIS WITH ASSOCIATED HEMATOLOGIC DISORDER, INCLUDED;;
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MASTOCYTOSIS, ADULT SPORADIC, INCLUDE
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MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET
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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
|
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
|
MULTIPLE MYELOMA, SOMATIC, INCLUDED;;
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MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO
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MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR
|
NEPHRONOPHTHISIS 9 (NPHP9)
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NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
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NEUROPATHY, HEREDITARY SENSORY, TYPE II
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NOONAN SYNDROME 7
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OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY
|
OGUCHI DISEASE 2
|
PARKINSON DISEASE 8, AUTOSOMAL DOMINANT
|
PEUTZ-JEGHERS SYNDROME
|
PFEIFFER SYNDROME
|
PHEOCHROMOCYTOMA, INCLUDED
|
PHEOCHROMOCYTOMA, SOMATIC, IN
|
PIEBALDISM
|
PIEBALDISM WITH SENSORINEURAL DEAFNESS
|
PROSTATE CANCER, PROGRESSION AND METASTASIS OF
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RENAL AGENESIS
|
RENAL CELL CARCINOMA, PAPILLARY, 1
|
RENAL CELL CARCINOMA, PAPILLARY, 1, SOMATIC
|
RETINITIS PIGMENTOSA 38
|
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
|
SPINOCEREBELLAR ATAXIA 14
|
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE
|
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, FOLLICULAR, SOMATIC, INCLUDED
|
THYROID CARCINOMA, PAPILLARY, SOMATIC, INCLUDED;;|
|
THYROID CARCINOMA, SPORADIC MEDULLARY, INCLUDED;;
|
TO
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VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL
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