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Retinoblastoma
Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. [from GeneReviews]
Neuroblastoma
ALK-related neuroblastic tumor susceptibility is characterized by increased risk for neuroblastic tumors including neuroblastoma, ganglioneuroblastoma, and ganglioneuroma. Neuroblastoma is a more malignant tumor and ganglioneuroma a more benign tumor. Depending on the histologic findings, ganglioneuroblastoma can behave in a more aggressive fashion, like neuroblastoma, or in a benign fashion, like ganglioneuroma. Preliminary data from the ten reported families with ALK-related neuroblastic tumor susceptibility suggest an overall penetrance of approximately 57% with the risk for neuroblastic tumor development highest in infancy and decreasing by late childhood. [from GeneReviews]
Anorectal malformation
Aggressive behavior
Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires). [from HPO]
Ependymoblastoma
A highly malignant embryonal tumor of infancy and young childhood characterized by neuroectodermal elements organized in distinctive multilayered rosettes. Ependymoblastomas are large lesions that occur in the supratentorial compartment, typically displaying a physical connection to the ventricular system. [from HPO]
Peripheral primitive neuroectodermal tumor
A primitive neuroectodermal neoplasm that occurs extracranially in soft tissue and bone. [from HPO]
Neoplasm of the central nervous system
A neoplasm of the central nervous system. [from HPO]
Primitive neuroectodermal tumor
A tumor that originates in cells from the primitive neural crest. This group of tumors is characteirzed by the presence of primitive cells with elements of neuronal and/or glial differentiation. [from HPO]
Neoplasm of brain
A benign or malignant neoplasm that arises from or metastasizes to the brain. [from HPO]
Intracranial primitive neuroectodermal tumor
A central nervous system embryonal tumor, not otherwise specified arising from the brain. [from NCI]
Pediatric cerebral ependymoblastoma
An embryonal tumor with multilayered rosettes, C19MC-altered that arises from the cerebral hemispheres and occurs in children. [from NCI]
Cerebral neuroblastoma
A neuroblastoma arising from the central nervous system. [from NCI]
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