Human Phenotype Ontology China

Last uploaded: November 21, 2019
Preferred Name

Retinoblastoma

Synonyms

RETINOBLASTOMA, MALIGNANT

Retinoblastoma

retinoblastoma

RB

Definitions

A malignant tumor that originates in the nuclear layer of the retina. As the most common primary tumor of the eye in children, retinoblastoma is still relatively uncommon, accounting for only 1% of all malignant tumors in pediatric patients. Approximately 95% of cases are diagnosed before age 5. These tumors may be multifocal, bilateral, congenital, inherited, or acquired. Seventy-five percent of retinoblastomas are unilateral; 60% occur sporadically. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form also appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma.

ID

http://purl.obolibrary.org/obo/NCIT_C7541

definition

A malignant tumor that originates in the nuclear layer of the retina. As the most common primary tumor of the eye in children, retinoblastoma is still relatively uncommon, accounting for only 1% of all malignant tumors in pediatric patients. Approximately 95% of cases are diagnosed before age 5. These tumors may be multifocal, bilateral, congenital, inherited, or acquired. Seventy-five percent of retinoblastomas are unilateral; 60% occur sporadically. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form also appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma.

has_exact_synonym

RETINOBLASTOMA, MALIGNANT

Retinoblastoma

retinoblastoma

RB

has_obo_namespace

mouse_pathology.ontology

id

NCIT:C7541

label

Retinoblastoma

notation

NCIT:C7541

prefLabel

Retinoblastoma

subClassOf

http://purl.obolibrary.org/obo/NCIT_C7061

http://purl.obolibrary.org/obo/MPATH_373

http://purl.obolibrary.org/obo/NCIT_C3216

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