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Results: 3

1.

Retinoblastoma

A tumor of the eye originating from cells of the retina. [from HPO]

MedGen UID:
506340
Concept ID:
CN008757
Finding
2.

Retinoblastoma

Retinoblastoma (Rb) is a malignant tumor of the developing retina that occurs in children, usually before age five years. Rb occurs in cells that have cancer-predisposing variants of both copies of RB1. Rb may be unifocal or multifocal. About 60% of affected individuals have unilateral Rb with a mean age of diagnosis of 24 months; about 40% have bilateral Rb with a mean age of diagnosis of 15 months. Individuals heterozygous for a cancer-predisposing variant of one RB1 allele are said to have a germline pathogenic variant and thus have a heritable predisposition to Rb. They are also at increased risk of developing non-ocular tumors. [from GeneReviews]

MedGen UID:
20552
Concept ID:
C0035335
Neoplastic Process
3.

HIV

An infection caused by the human immunodeficiency virus. [from NCI]

MedGen UID:
5583
Concept ID:
C0019693
Disease or Syndrome

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