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Items: 20

6.

#217095 - CONOTRUNCAL HEART MALFORMATIONS; CTHM

TRUNCUS ARTERIOSUS COMMUNIS, INCLUDED

Cytogenetic locations: 1pter-p36.13, 22q11.21, 1pter-p36.13, 19p13.11, 1pter-p36.13, 18q11.2

7.
9.

#188400 - DIGEORGE SYNDROME; DGS

DIGEORGE SYNDROME CHROMOSOME REGION, INCLUDED; DGCR, INCLUDED

Cytogenetic locations: 22q11.21

10.

#187500 - TETRALOGY OF FALLOT; TOF

Cytogenetic locations: 1pter-p36.13, 20p12.2, 1pter-p36.13, 19p13.11, 1pter-p36.13, 18q11.2

11.

#180300 - RHEUMATOID ARTHRITIS; RA

Cytogenetic locations: 5q31.1, 1pter-p36.13, 1p36.13, 1pter-p36.13, 1q32.1, 1pter-p36.13, 16p13.13, 1pter-p36.13, 1q23.3

12.

#173900 - POLYCYSTIC KIDNEY DISEASE 1; PKD1

POLYCYSTIC KIDNEY DISEASE, ADULT, INCLUDED; APKD, INCLUDED

Cytogenetic locations: 16p13.3

14.

#163950 - NOONAN SYNDROME 1; NS1

PTERYGIUM COLLI SYNDROME, INCLUDED

Cytogenetic locations: 12q24.13

15.

*151410 - BREAKPOINT CLUSTER REGION; BCR

BCR/ABL FUSION GENE, INCLUDED

Cytogenetic locations: 22q11.23

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