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Mondo Disease Ontology
Last uploaded:
February 4, 2025
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| Id | http://purl.obolibrary.org/obo/MONDO_0018160
http://purl.obolibrary.org/obo/MONDO_0018160
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|---|---|
| Preferred Name | hereditary 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.
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| Synonyms | |
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| 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. |
|---|---|
| label |
hereditary retinoblastoma
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| prefLabel |
hereditary retinoblastoma
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| database_cross_reference |
OMIM:180200
DOID:4648
NCIT:C8495
MEDGEN:155869
Orphanet:357027
GARD:17544
UMLS:C0751483
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| IAO_0000233 | |
| notation |
MONDO:0018160
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| in_subset | |
| id |
MONDO:0018160
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| skos_exactMatch | |
| subClassOf | |
| type | |
| has_exact_synonym |
retinoblastoma, trilateral, autosomal dominant, somatic mutation
RB1
familial retinoblastoma
retinoblastoma, autosomal dominant, somatic mutation
hereditary retinoblastoma
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