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Items: 3

1.

46,XY sex reversal 4

Sex reversal in an individual associated with a 9p24.3 deletion. [from NCI]

MedGen UID:
416704
Concept ID:
C2752149
Congenital Abnormality
2.

Seckel syndrome 9

Any Seckel syndrome in which the cause of the disease is a mutation in the TRAIP gene. [from MONDO]

MedGen UID:
907155
Concept ID:
C4225212
Disease or Syndrome
3.

Agonadism

Absence of sex glands (gonads are the organs that produce gametes; testis in males and ovary in females). [from HPO]

MedGen UID:
899272
Concept ID:
C2118097
Disease or Syndrome
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