About: familial retinoblastoma

Facets (new session)
Description
Metadata
Settings
- owl:sameAs
- Inference Rule:

About: familial retinoblastoma Goto Sponge NotDistinct Permalink

An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

Human disease

Attributes	Values
rdf:type	Item
description	Krankheit (de) Human disease (en) մարդու հիվանդություն (hy) хвороба людини (uk) مرض يصيب الإنسان (ar)
exact match	wds:Q18556413-944EE7C4-3212-4C64-9665-D5DF5BB2E8E9 wds:Q18556413-D97CF4B3-A65B-43F9-83FB-8FE7B97B7824 wds:Q18556413-DA247A45-1EE8-4C88-B79B-39137AF9C1BC
exact match	http://purl.obolibrary.org/obo/DOID_4648 http://identifiers.org/doid/DOID:4648 http://www.orpha.net/ORDO/Orphanet_357027
health specialty	wds:Q18556413-6D8D5ACA-EA12-4B1C-B173-5A2ED9DE1A96 wds:Q18556413-A1228995-1D0E-4C45-A417-8C01AE74642A
drug or therapy used for treatment	wds:Q18556413-0D8B8322-6587-4340-AACB-AE63B5A59215 wds:Q18556413-A77D60F4-F79D-4080-BF64-B853DE9E3C9E
Mondo ID	wds:Q18556413-4B484912-802D-4C27-B7EB-E814194D22FA
Disease Ontology ID	wds:Q18556413-8631AD66-2859-4F66-8183-0520B4E6CA8F
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0018160
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:4648
health specialty	ophthalmology oncology
drug or therapy used for treatment	(RS)-cyclophosphamide dactinomycin
Mondo ID	MONDO_0018160
Disease Ontology ID	DOID:4648
rdfs:label	familial retinoblastoma (en) retinoblastoma etifeddol (cy) retinoblastoma familiar (ca) rétinoblastome familial (fr)
skos:prefLabel	familial retinoblastoma (en) retinoblastoma etifeddol (cy) retinoblastoma familiar (ca) rétinoblastome familial (fr)
name	familial retinoblastoma (en) retinoblastoma etifeddol (cy) retinoblastoma familiar (ca) rétinoblastome familial (fr)
instance of	wds:Q18556413-4A33C14F-1C0E-4EB8-AC2C-889A45497538
instance of	class of disease
subclass of	wds:Q18556413-5941AACD-2C70-4660-9D6C-11A9CB6B847F wds:Q18556413-5eae88c5-48ef-7463-2260-fc184dc2ff3a
subclass of	hereditary neoplastic syndromes retinoblastoma
Orphanet ID	wds:Q18556413-9E05CFB3-2860-464B-84FC-3D4BDE428DF5
genetic association	wds:Q18556413-FE57FC66-2549-402A-A54B-0AFFE5F889BB
ICD-10-CM	wds:Q18556413-07CC647A-99EC-4250-A0D7-13A894F76D64
Orphanet ID	357027
genetic association	RB1
ICD-10-CM	C69.2
skos:altLabel	Hereditary Retinoblastoma (en)
NCI Thesaurus ID	wds:Q18556413-4870DA53-D502-4CD3-A72B-CF4F12088284 wds:Q18556413-80013A29-EC86-45FC-84BB-B723E733BFA6
UMLS CUI	wds:Q18556413-5126580F-019E-464F-AA8E-93AEF37C7ABE wds:Q18556413-641A8EB4-A6CE-4349-AB25-C6845BF51CEF
on focus list of Wikimedia project	wds:Q18556413-62FE1F27-B94C-4D0F-AFBC-88C94721580B
NCI Thesaurus ID	C8495
UMLS CUI	C0751483
on focus list of Wikimedia project	WikiProject Medicine
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q18556413
is cites work of	Factors for Improved Genetic Counseling for Retinoblastoma Based on a Survey of 55 Families
is cites work of	wds:Q41600107-BA4E0AA4-6E03-469A-AF70-FE617256706F
is main subject of	Stage of presentation and visual outcome of patients screened for familial retinoblastoma: nationwide registration in the Netherlands Incomplete penetrance of familial retinoblastoma linked to germ-line mutations that result in partial loss of RB function Familial retinoblastoma: where and when? Familial Retinoblastoma and Chromosome 13 Deletion Transmitted via an Insertional Translocation Application of PCR amplification of DNA from paraffin embedded tissue sections to linkage analysis in familial retinoblastoma Familial retinoblastoma in developing countries. Familial retinoblastoma (mother and son) with 13q14 deletion. Temperature-sensitive RB mutations linked to incomplete penetrance of familial retinoblastoma in 12 families Partial inactivation of the RB product in a family with incomplete penetrance of familial retinoblastoma and benign retinal tumors. Genotype-phenotype correlations in hereditary familial retinoblastoma A microsatellite fluorescent method for linkage analysis in familial retinoblastoma and deletion detection at the RB1 locus in retinoblastoma and osteosarcoma Familial retinoblastoma: segregation of chromosome 13 in four families. A case of naevus sebaceous associated with familial retinoblastoma, multiple lipomata and meningioma Familial retinoblastoma due to intronic LINE-1 insertion causes aberrant and noncanonical mRNA splicing of the RB1 gene. Familial Retinoblastoma: Raised Awareness Improves Early Diagnosis and Outcome. At what age could screening for familial retinoblastoma be stopped? A register based study 1945-98. Familial retinoblastoma: fundus screening schedule impact and guideline proposal. A retrospective study [Familial retinoblastoma with regression in certain localizations] Prophylactic retinal radiotherapy has an exceptional place in the management of familial retinoblastoma Multiple acral fibromas in a patient with familial retinoblastoma: a cutaneous marker of tumour-suppressor gene germline mutation? Intrasellar primitive neuroectodermal tumor (PNET) in familial retinoblastoma: a variant of "trilateral retinoblastoma". Familial retinoblastoma and ataxia telangiectasia: human models for the study of DNA damage and repair [Familial retinoblastoma: cytogenetic study of the tumor] Simultaneous presentation of retinopathy of prematurity and bilateral familial retinoblastoma in a premature infant. Familial retinoblastoma in the experience of the Department of Ophthalmology and Ocular Oncology in Kraków Familial retinoblastoma with unilateral and unifocal involvement in 2 families
is main subject of	wds:Q33596814-AE59A7B1-4638-4C4E-A9D8-857E54D3494C wds:Q48082833-3FC4CA4E-1109-4017-BF03-DEBC70AFA0DC wds:Q54133028-5CE600B5-AE33-40A2-8B70-E4700D58712C wds:Q73968350-DCC0A8BA-D929-4B24-8B79-96E01BDE9E22 wds:Q74827866-2593737A-D9E6-47F5-9853-3D23BCF2EBD1 wds:Q67379895-3CA1B374-2EDD-48A4-ACF9-A7E920D787A7 wds:Q35603507-E812C09B-05E4-4AC8-B637-74825764E97D wds:Q34145693-02951195-2C77-4BA6-B188-D7D5997F5455 wds:Q35977419-6871A328-7122-41C6-A8FE-1B16B3947CDA wds:Q73167202-2AA3D402-2060-494C-A837-452EA020E32E wds:Q42841909-48990FEF-542D-487E-A4F2-50265D32A213 wds:Q44968807-084F3CB3-8FF4-4D2D-B4E3-5F95518535A1

Faceted Search & Find service v1.16.117 as of May 05 2024

Alternative Linked Data Documents: ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 07.20.3239 as of May 5 2024, on Linux (x86_64-centos_6-linux-gnu), Single-Server Edition (378 GB total memory, 190 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software