loading...| Preferred Name | hereditary retinoblastoma | |
| Synonyms |
retinoblastoma, autosomal dominant, somatic mutation hereditary retinoblastoma familial retinoblastoma retinoblastoma, trilateral, autosomal dominant, somatic mutation RB1 |
|
| 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. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0018160 |
|
| database_cross_reference |
UMLS:C0751483 MEDGEN:155869 Orphanet:357027 OMIM:180200 DOID:4648 GARD:17544 NCIT:C8495 |
|
| 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. |
|
| has_exact_synonym |
retinoblastoma, autosomal dominant, somatic mutation hereditary retinoblastoma familial retinoblastoma retinoblastoma, trilateral, autosomal dominant, somatic mutation RB1 |
|
| IAO_0000233 |
https://github.com/monarch-initiative/mondo/issues/2760#issuecomment-894549526 |
|
| id |
MONDO:0018160 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_subtype_of_a_disorder |
|
| label |
hereditary retinoblastoma |
|
| notation |
MONDO:0018160 |
|
| preferred label |
hereditary retinoblastoma |
|
| prefLabel |
hereditary retinoblastoma |
|
| skos_exactMatch |
http://identifiers.org/medgen/155869 http://purl.obolibrary.org/obo/NCIT_C8495 http://purl.obolibrary.org/obo/DOID_4648 |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0015356 |