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retinoblastoma

Go to external page http://purl.obolibrary.org/obo/MONDO_0008380

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. [ NCIT:C7541 ]

Synonyms: RB retinoblastoma retinoblastoma, malignant RB - retinoblastoma

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:C0035335 (MONDO:equivalentTo)
  • MedDRA:10038916 (Orphanet:790/e)
  • MESH:D012175 (Orphanet:790/e)
  • ONCOTREE:RBL (MONDO:equivalentTo)
  • icd11.foundation:1855353671 (Orphanet:790)
  • SCTID:370967009 (MONDO:equivalentTo)
  • Orphanet:790 (OMIM:180200)
  • GARD:7563 (MONDO:GARD)
  • NANDO:2200042 (https://orcid.org/0000-0003-0011-764X)
  • MEDGEN:20552 (MONDO:equivalentTo)
  • NCIT:C7541 (MONDO:equivalentTo)
  • NCIT:C6956 (MONDO:relatedTo)
  • DOID:768 (MONDO:equivalentTo)
  • ICDO:9510/3 (NCIT:C7541)
Subsets

ordo_disorder, gard_rare, matrix_llm__is_cancer_other, matrix_txgnn_grouping_cancer_or_benign_tumor, mondo_top_grouping_disorder_of_visual_system, matrix_llm__txgnn_other, mondo_top_grouping_member, matrix_included, clingen, mondo_top_grouping_cancer_or_benign_tumor, matrix_txgnn_grouping_member, rare, orphanet_rare, harrisons_view_nervous_system_disorder, matrix_llm__is_glucose_dysfunction_other, otar, matrix_llm__tag_qualy_lost_other, matrix_llm__medical_specialization_other, harrisons_view_disorder_of_visual_system, matrix_llm__tag_existing_treatment_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, harrisons_view_cancer_or_benign_tumor, harrisons_view_member, mondo_top_grouping_nervous_system_disorder, mondo_top_grouping_disorder_of_orbital_region

abbreviation
RB1 [ MONDO:Lexical ]

abbreviation
RB [ DOID:768 NCIT:C7541 ]

ClinGen label
retinoblastoma [ MONDO:Lexical Orphanet:790 NCIT:C7541 icd11.foundation:1855353671 DOID:768 ]

closeMatch

http://identifiers.org/meddra/10038916

curated content resource

https://search.clinicalgenome.org/kb/conditions/MONDO:0008380

exactMatch

http://identifiers.org/mesh/D012175

http://purl.obolibrary.org/obo/DOID_768

http://identifiers.org/medgen/20552

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

http://www.orpha.net/ORDO/Orphanet_790

http://identifiers.org/snomedct/370967009

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1855353671

http://linkedlifedata.com/resource/umls/id/C0035335

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0015966

http://purl.obolibrary.org/obo/MONDO_0020238

excluded from qc check

http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

has related synonym

Rb

eye cancer, retinoblastoma

id

MONDO:0008380

term tracker item

https://github.com/monarch-initiative/mondo/issues/2760#issuecomment-894549526