AORTIC ANEURYSM, FAMILIAL THORACIC 4
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ARTHROGRYPOSIS, DISTAL, 2B (DA2B)
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ARTHROGRYPOSIS, DISTAL, TYPE 2A
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ARTHROGRYPOSIS, DISTAL, TYPE 2B
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ARTHROGRYPOSIS, DISTAL, TYPE 2B, INCLUDED
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ATRIAL SEPTAL DEFECT 3
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CARDIOMYOPATHY, DILATED 1EE (CMD1EE)
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CARDIOMYOPATHY, DILATED 1S (CMD1S)
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CARDIOMYOPATHY, DILATED, 1EE
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CARDIOMYOPATHY, DILATED, 1S
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CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 1 (CMH1)
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CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 14 (CMH14)
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CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
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CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 14
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CARDIOMYOPATHY, HYPERTROPHIC, MIDVENTRICULAR, DIGENIC
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CARNEY COMPLEX VARIANT
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DEAFNESS, AUTOSOMAL DOMINANT 11
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DEAFNESS, AUTOSOMAL DOMINANT 17
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DEAFNESS, AUTOSOMAL DOMINANT 22
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DEAFNESS, AUTOSOMAL DOMINANT 4
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DEAFNESS, AUTOSOMAL DOMINANT 48
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DEAFNESS, AUTOSOMAL DOMINANT, 11 (DFNA11)
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DEAFNESS, AUTOSOMAL DOMINANT, 22 (DFNA22)
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DEAFNESS, AUTOSOMAL DOMINANT, 48 (DFNA48)
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DEAFNESS, AUTOSOMAL RECESSIVE 2
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DEAFNESS, AUTOSOMAL RECESSIVE 3
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DEAFNESS, AUTOSOMAL RECESSIVE 30
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DEAFNESS, AUTOSOMAL RECESSIVE 37
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DEAFNESS, AUTOSOMAL RECESSIVE, 2 (DFNB2)
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DEAFNESS, AUTOSOMAL RECESSIVE, 37 (DFNB37)
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DEAFNESS, SENSORINEURAL, WITH HYPERTROPHIC CARDIOMYOPATHY
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DEAFNESS, SENSORINEURAL, WITH HYPERTROPHIC CARDIOMYOPATHY (DFNHCM)
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DEAFNESS, WITH SMITH-MAGENIS SYNDROME
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DIARRHEA 2, WITH MICROVILLUS ATROPHY (DIAR2)
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EPSTEIN SYNDROME
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EPSTEIN SYNDROME, INCLUDED
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EPSTEIN SYNDROME, INCLUDED;;
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FECHTNER SYNDROME
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FECHTNER SYNDROME, INCLUDED
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FECHTNER SYNDROME, INCLUDED;;
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FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6
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FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6 (FSGS6)
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LAING DISTAL MYOPATHY
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LEFT VENTRICULAR NONCOMPACTION 5
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LEFT VENTRICULAR NONCOMPACTION 5, INCLUDED
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MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, INCLUD
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MAY-HEGGLIN ANOMALY
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MAY-HEGGLIN ANOMALY (MHA)
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MAY-HEGGLIN ANOMALY, INCLUDED
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MICROVILLUS INCLUSION DISEASE
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MYOPATHY, DISTAL, 1 (MPD1)
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PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS
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SCAPULOPERONEAL MYOPATHY MYH7-RELATED (SPMM)
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SEBASTIAN SYNDROME
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SEBASTIAN SYNDROME (SBS)
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SEBASTIAN SYNDROME, INCLUDED;;
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SICK SINUS SYNDROME 3, SUSCEPTIBILITY TO
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TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, INCLUDED
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USHER SYNDROME 1B (USH1B)
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USHER SYNDROME, TYPE IB
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USHER SYNDROME, TYPE IB, INCLUDED
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