Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

ROTHMUND-THOMSON SYNDROME, TYPE 2
Synonyms

ROTHMUND-THOMSON SYNDROME

RTS2
ID

http://purl.bioontology.org/ontology/OMIM/268400
altLabel

ROTHMUND-THOMSON SYNDROME

RTS2
cui

C0032339

C5203410
Gene Locus

8q24.3
Gene Symbol

RTS

RECQL4

RECQ4
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU036686

http://purl.bioontology.org/ontology/OMIM/MTHU000128

http://purl.bioontology.org/ontology/OMIM/MTHU003093

http://purl.bioontology.org/ontology/OMIM/MTHU009584

http://purl.bioontology.org/ontology/OMIM/MTHU000258

http://purl.bioontology.org/ontology/OMIM/MTHU009581

http://purl.bioontology.org/ontology/OMIM/MTHU002047

http://purl.bioontology.org/ontology/OMIM/MTHU009583

http://purl.bioontology.org/ontology/OMIM/MTHU002045

http://purl.bioontology.org/ontology/OMIM/MTHU009585

http://purl.bioontology.org/ontology/OMIM/MTHU004639

http://purl.bioontology.org/ontology/OMIM/MTHU067877

http://purl.bioontology.org/ontology/OMIM/MTHU009587

http://purl.bioontology.org/ontology/OMIM/MTHU001761

http://purl.bioontology.org/ontology/OMIM/MTHU036695

http://purl.bioontology.org/ontology/OMIM/MTHU009580

http://purl.bioontology.org/ontology/OMIM/MTHU007082

http://purl.bioontology.org/ontology/OMIM/MTHU005792

http://purl.bioontology.org/ontology/OMIM/MTHU009588

http://purl.bioontology.org/ontology/OMIM/MTHU004124

http://purl.bioontology.org/ontology/OMIM/MTHU007401

http://purl.bioontology.org/ontology/OMIM/MTHU003105

http://purl.bioontology.org/ontology/OMIM/MTHU000129

http://purl.bioontology.org/ontology/OMIM/MTHU036342

http://purl.bioontology.org/ontology/OMIM/MTHU067875

http://purl.bioontology.org/ontology/OMIM/MTHU000389

http://purl.bioontology.org/ontology/OMIM/MTHU004139

http://purl.bioontology.org/ontology/OMIM/MTHU002160

http://purl.bioontology.org/ontology/OMIM/MTHU000132

http://purl.bioontology.org/ontology/OMIM/MTHU009586

http://purl.bioontology.org/ontology/OMIM/MTHU001429

http://purl.bioontology.org/ontology/OMIM/MTHU002380

http://purl.bioontology.org/ontology/OMIM/MTHU009589

http://purl.bioontology.org/ontology/OMIM/MTHU009577

http://purl.bioontology.org/ontology/OMIM/MTHU001753

http://purl.bioontology.org/ontology/OMIM/MTHU000066

http://purl.bioontology.org/ontology/OMIM/MTHU009578

http://purl.bioontology.org/ontology/OMIM/MTHU036449

http://purl.bioontology.org/ontology/OMIM/MTHU007081

http://purl.bioontology.org/ontology/OMIM/MTHU067876

http://purl.bioontology.org/ontology/OMIM/MTHU009582

http://purl.bioontology.org/ontology/OMIM/MTHU000145

http://purl.bioontology.org/ontology/OMIM/MTHU009579

http://purl.bioontology.org/ontology/OMIM/MTHU009590
MIMTYPEMEANING

Phenotype description, molecular basis known.
Moved from

270240
notation

268400
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

ROTHMUND-THOMSON SYNDROME, TYPE 2
Scope Statement

Caused by mutation in the Req-like DNA helicase type 4 gene (RECQL4, 603780.0001) [MOLECULAR BASIS]
tui

T047
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Mapping To Ontology Source
http://purl.bioontology.org/ontology/MSHFRE/D011038 MSHFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/1003923009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/69093006 SCTSPA CUI
http://purl.bioontology.org/ontology/RCD/PH320 RCD CUI
http://purl.bioontology.org/ontology/PDQ/CDR0000654676 PDQ CUI
http://purl.bioontology.org/ontology/SNOMEDCT/69093006 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNMI/D4-00403 SNMI CUI
http://purl.bioontology.org/ontology/MEDDRA/10052510 MEDDRA CUI
http://purl.bioontology.org/ontology/MESH/D011038 MESH CUI
http://purl.bioontology.org/ontology/MDRGER/10052465 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10052510 MDRGER CUI
http://purl.bioontology.org/ontology/NDFRT/N0000171676 NDFRT CUI
http://purl.bioontology.org/ontology/MEDDRA/10052465 MEDDRA CUI
http://purl.bioontology.org/ontology/ICD10CM/Q82.8 ICD10CM CUI
http://purl.bioontology.org/ontology/MDRFRE/10052465 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10052510 MDRFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/1003923009 SCTSPA CUI
http://purl.obolibrary.org/obo/MONDO_0016369 MONDO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_18930 HRDO LOOM
http://purl.obolibrary.org/obo/MONDO_0016369 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0016369 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0016369 DOVES LOOM
http://www.orpha.net/ORDO/Orphanet_221016 ORDO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/1003923009 SNOMEDCT LOOM
http://purl.obolibrary.org/obo/NCIT_C178827 BERO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C178827 NCIT LOOM