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(Q18556413)
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English
familial retinoblastoma
Human disease
Hereditary Retinoblastoma
In more languages
default for all languages
No label defined
No description defined
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Statements
instance of
class of disease
0 references
subclass of
retinoblastoma
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:4648
hereditary neoplastic syndromes
0 references
health specialty
ophthalmology
0 references
oncology
0 references
drug or therapy used for treatment
dactinomycin
1 reference
stated in
NDF-RT
NDF-RT ID
N0000146314
language of work or name
English
retrieved
13 December 2016
(RS)-cyclophosphamide
1 reference
stated in
NDF-RT
NDF-RT ID
N0000146452
language of work or name
English
retrieved
13 December 2016
genetic association
RB1
1 reference
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000139687/MONDO_0018160
based on heuristic
inferred from an Open Targets association score over 0.7
on focus list of Wikimedia project
WikiProject Medicine
0 references
NCI Thesaurus ID
C8495
1 reference
stated in
Disease Ontology
retrieved
15 May 2019
Disease Ontology ID
DOID:4648
C8495
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0018160
exact match
http://purl.obolibrary.org/obo/DOID_4648
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:4648
http://identifiers.org/doid/DOID:4648
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
http://www.orpha.net/ORDO/Orphanet_357027
0 references
Identifiers
Disease Ontology ID
DOID:4648
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:4648
ICD-10-CM
C69.2
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0018160
Mondo ID
MONDO_0018160
0 references
Orphanet ID
357027
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0018160
UMLS CUI
C0751483
1 reference
stated in
Disease Ontology
retrieved
15 May 2019
Disease Ontology ID
DOID:4648
C0751483
mapping relation type
close match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0018160
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Wiktionary
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