Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023

Preferred Name	Hereditary retinoblastoma
Synonyms
ID	http://www.orpha.net/ORDO/Orphanet_357027
expertlink	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357027
has_age_of_onset	Infancy Neonatal
has_inheritance	Autosomal dominant
hasDbXref	UMLS:C0751483 ICD-10:C69.2 OMIM:180200 ICD-11:2D02.2
label	Hereditary retinoblastoma
notation	ORPHA:357027 Clinical subtype
part_of	http://www.orpha.net/ORDO/Orphanet_140162 http://www.orpha.net/ORDO/Orphanet_183619 http://www.orpha.net/ORDO/Orphanet_790
prefixIRI	ORDO:Orphanet_357027
prefLabel	Hereditary retinoblastoma
present_in	Worldwide AND has_point_prevalence_range : Unknown
treeView	http://www.orpha.net/ORDO/Orphanet_140162 http://www.orpha.net/ORDO/Orphanet_183619 http://www.orpha.net/ORDO/Orphanet_790
subClassOf	http://www.orpha.net/ORDO/Orphanet_557494

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://www.orpha.net/ORDO/Orphanet_357027	EFO	SAME_URI
http://www.orpha.net/ORDO/Orphanet_357027	EFO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0018160	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0018160	EFO	LOOM
http://purl.obolibrary.org/obo/NCIT_C8495	BERO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Hereditary_Retinoblastoma_RB1	CSEO	LOOM
http://purl.bioontology.org/ontology/PDQ/CDR0000042842	PDQ	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C8495	NCIT	LOOM
http://purl.obolibrary.org/obo/MONDO_0018160	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0018160	DOVES	LOOM
http://www.gamuts.net/entity#familial_retinoblastoma	GAMUTS	REST