Physician Data Query

Last uploaded: January 31, 2024
Preferred Name

hereditary retinoblastoma

Synonyms

Familial Retinoblastoma

Definitions

An inherited malignant tumor that originates in the nuclear layer of the retina. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma. Check for "https://www.cancer.gov/about-cancer/treatment/clinical-trials/intervention/C8495" active clinical trials using this agent. ("http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI%20Thesaurus&code=C8495" NCI Thesaurus)

ID

http://purl.bioontology.org/ontology/PDQ/CDR0000042842

altLabel

Familial Retinoblastoma

retinoblastoma, hereditary

Associated disease

http://purl.bioontology.org/ontology/PDQ/CDR0000636561

http://purl.bioontology.org/ontology/PDQ/CDR0000039836

http://purl.bioontology.org/ontology/PDQ/CDR0000038825

http://purl.bioontology.org/ontology/PDQ/CDR0000043733

http://purl.bioontology.org/ontology/PDQ/CDR0000040252

http://purl.bioontology.org/ontology/PDQ/CDR0000041729

http://purl.bioontology.org/ontology/PDQ/CDR0000040209

http://purl.bioontology.org/ontology/PDQ/CDR0000043673

http://purl.bioontology.org/ontology/PDQ/CDR0000041746

http://purl.bioontology.org/ontology/PDQ/CDR0000039486

http://purl.bioontology.org/ontology/PDQ/CDR0000038833

cui

C0751483

Date last modified

2012-02-13

definition

An inherited malignant tumor that originates in the nuclear layer of the retina. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma. Check for "https://www.cancer.gov/about-cancer/treatment/clinical-trials/intervention/C8495" active clinical trials using this agent. ("http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI%20Thesaurus&code=C8495" NCI Thesaurus)

Legacy PDQ ID

6647

NCI ID

C8495

notation

CDR0000042842

ORIG STY

Genetic condition

prefLabel

hereditary retinoblastoma

tui

T191

subClassOf

http://purl.bioontology.org/ontology/PDQ/CDR0000256156

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