Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

COSTELLO SYNDROME
Synonyms

CMEMS
ID

http://purl.bioontology.org/ontology/OMIM/218040
altLabel

CMEMS

CSTLO

MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES

FACIOCUTANEOSKELETAL SYNDROME

FCS SYNDROME
cui

C1968782

C0587248
Gene Locus

11p15.5
Gene Symbol

HRAS
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU000231

http://purl.bioontology.org/ontology/OMIM/MTHU004360

http://purl.bioontology.org/ontology/OMIM/MTHU013708

http://purl.bioontology.org/ontology/OMIM/MTHU013720

http://purl.bioontology.org/ontology/OMIM/MTHU026204

http://purl.bioontology.org/ontology/OMIM/MTHU013717

http://purl.bioontology.org/ontology/OMIM/MTHU000263

http://purl.bioontology.org/ontology/OMIM/MTHU000691

http://purl.bioontology.org/ontology/OMIM/MTHU002155

http://purl.bioontology.org/ontology/OMIM/MTHU010521

http://purl.bioontology.org/ontology/OMIM/MTHU027850

http://purl.bioontology.org/ontology/OMIM/MTHU045372

http://purl.bioontology.org/ontology/OMIM/MTHU031858

http://purl.bioontology.org/ontology/OMIM/MTHU010311

http://purl.bioontology.org/ontology/OMIM/MTHU013710

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

http://purl.bioontology.org/ontology/OMIM/MTHU067563

http://purl.bioontology.org/ontology/OMIM/MTHU000576

http://purl.bioontology.org/ontology/OMIM/MTHU013715

http://purl.bioontology.org/ontology/OMIM/MTHU000830

http://purl.bioontology.org/ontology/OMIM/MTHU002002

http://purl.bioontology.org/ontology/OMIM/MTHU000371

http://purl.bioontology.org/ontology/OMIM/MTHU023521

http://purl.bioontology.org/ontology/OMIM/MTHU001467

http://purl.bioontology.org/ontology/OMIM/MTHU000623

http://purl.bioontology.org/ontology/OMIM/MTHU008449

http://purl.bioontology.org/ontology/OMIM/MTHU013709

http://purl.bioontology.org/ontology/OMIM/MTHU001601

http://purl.bioontology.org/ontology/OMIM/MTHU012591

http://purl.bioontology.org/ontology/OMIM/MTHU001061

http://purl.bioontology.org/ontology/OMIM/MTHU000514

http://purl.bioontology.org/ontology/OMIM/MTHU002499

http://purl.bioontology.org/ontology/OMIM/MTHU000317

http://purl.bioontology.org/ontology/OMIM/MTHU004602

http://purl.bioontology.org/ontology/OMIM/MTHU000512

http://purl.bioontology.org/ontology/OMIM/MTHU036357

http://purl.bioontology.org/ontology/OMIM/MTHU002153

http://purl.bioontology.org/ontology/OMIM/MTHU013719

http://purl.bioontology.org/ontology/OMIM/MTHU025399

http://purl.bioontology.org/ontology/OMIM/MTHU013707

http://purl.bioontology.org/ontology/OMIM/MTHU013711

http://purl.bioontology.org/ontology/OMIM/MTHU001106

http://purl.bioontology.org/ontology/OMIM/MTHU000579

http://purl.bioontology.org/ontology/OMIM/MTHU036403

http://purl.bioontology.org/ontology/OMIM/MTHU013714

http://purl.bioontology.org/ontology/OMIM/MTHU005309

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

http://purl.bioontology.org/ontology/OMIM/MTHU023520

http://purl.bioontology.org/ontology/OMIM/MTHU002092

http://purl.bioontology.org/ontology/OMIM/MTHU006083

http://purl.bioontology.org/ontology/OMIM/MTHU031860

http://purl.bioontology.org/ontology/OMIM/MTHU067564

http://purl.bioontology.org/ontology/OMIM/MTHU036439

http://purl.bioontology.org/ontology/OMIM/MTHU001440

http://purl.bioontology.org/ontology/OMIM/MTHU025398

http://purl.bioontology.org/ontology/OMIM/MTHU036522

http://purl.bioontology.org/ontology/OMIM/MTHU002674

http://purl.bioontology.org/ontology/OMIM/MTHU007900

http://purl.bioontology.org/ontology/OMIM/MTHU000268

http://purl.bioontology.org/ontology/OMIM/MTHU000509

http://purl.bioontology.org/ontology/OMIM/MTHU000133

http://purl.bioontology.org/ontology/OMIM/MTHU013722

http://purl.bioontology.org/ontology/OMIM/MTHU007842

http://purl.bioontology.org/ontology/OMIM/MTHU036339

http://purl.bioontology.org/ontology/OMIM/MTHU001062

http://purl.bioontology.org/ontology/OMIM/MTHU031859

http://purl.bioontology.org/ontology/OMIM/MTHU013723

http://purl.bioontology.org/ontology/OMIM/MTHU007850

http://purl.bioontology.org/ontology/OMIM/MTHU036338

http://purl.bioontology.org/ontology/OMIM/MTHU013716

http://purl.bioontology.org/ontology/OMIM/MTHU000081

http://purl.bioontology.org/ontology/OMIM/MTHU013648

http://purl.bioontology.org/ontology/OMIM/MTHU000199

http://purl.bioontology.org/ontology/OMIM/MTHU013712

http://purl.bioontology.org/ontology/OMIM/MTHU013713

http://purl.bioontology.org/ontology/OMIM/MTHU013725

http://purl.bioontology.org/ontology/OMIM/MTHU005783

http://purl.bioontology.org/ontology/OMIM/MTHU001468

http://purl.bioontology.org/ontology/OMIM/MTHU008784

http://purl.bioontology.org/ontology/OMIM/MTHU001654

http://purl.bioontology.org/ontology/OMIM/MTHU000260

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

http://purl.bioontology.org/ontology/OMIM/MTHU013718

http://purl.bioontology.org/ontology/OMIM/MTHU014703

http://purl.bioontology.org/ontology/OMIM/MTHU037343

http://purl.bioontology.org/ontology/OMIM/MTHU036364

http://purl.bioontology.org/ontology/OMIM/MTHU023522

http://purl.bioontology.org/ontology/OMIM/MTHU000094
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

218040
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

COSTELLO SYNDROME
Scope Statement

Phenotypic overlap with Noonan syndrome 3 (609942) or cardiofaciocutaneous syndrome (115150) [MISCELLANEOUS]

Associated with advanced paternal age [MISCELLANEOUS]

Characteristic facial features become more apparent with age [MISCELLANEOUS]

Sudden death [MISCELLANEOUS]

Caused by mutation in the V-Ha-RAS Harvey rat sarcoma viral oncogene homolog gene (HRAS, 190020.0001) [MOLECULAR BASIS]

De novo mutation in most cases [MISCELLANEOUS]
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C566896 MESH CUI
http://purl.bioontology.org/ontology/SNOMEDCT/309776008 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MSHFRE/D056685 MSHFRE CUI
http://purl.bioontology.org/ontology/NDFRT/N0000181164 NDFRT CUI
http://purl.bioontology.org/ontology/MDRFRE/10067380 MDRFRE CUI
http://purl.bioontology.org/ontology/PDQ/CDR0000725038 PDQ CUI
http://purl.bioontology.org/ontology/MEDDRA/10067380 MEDDRA CUI
http://purl.bioontology.org/ontology/SCTSPA/309776008 SCTSPA CUI
http://purl.bioontology.org/ontology/MESH/D056685 MESH CUI
http://purl.bioontology.org/ontology/MDRGER/10067380 MDRGER CUI
http://purl.obolibrary.org/obo/MONDO_0009026 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0009026 EFO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.185 RH-MESH LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_0050469 NATPRO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/309776008 SNOMEDCT LOOM
http://www.limics.org/hrdo/rdfns#pat_id_574 HRDO LOOM
http://purl.obolibrary.org/obo/DERMO_0000601 DERMO LOOM
http://purl.bioontology.org/ontology/RCTV2/PKy5B00 RCTV2 LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.256 RH-MESH LOOM
http://www.owl-ontologies.com/unnamed.owl#RID14692 DERMLEX LOOM
http://purl.obolibrary.org/obo/OMIT_0026684 OMIT LOOM
http://purl.obolibrary.org/obo/NCIT_C84652 BERO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D056685 RH-MESH LOOM
http://www.orpha.net/ORDO/Orphanet_3071 ORDO LOOM
http://id.nlm.nih.gov/mesh/D056685 MDM LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84652 NCIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.660.207.219 RH-MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00039950 PMAPP-PMO LOOM
http://nanbyodata.jp/ontology/NANDO_2200971 NANDO LOOM
http://purl.obolibrary.org/obo/DOID_0050469 DTO LOOM
http://purl.obolibrary.org/obo/DOID_0050469 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0050469 BAO LOOM
http://purl.obolibrary.org/obo/DOID_0050469 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0050469 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0050469 FNS-H LOOM
http://purl.bioontology.org/ontology/PDQ/CDR0000725038 PDQ LOOM
http://purl.bioontology.org/ontology/MEDDRA/10067380 MEDDRA LOOM
http://purl.obolibrary.org/obo/MONDO_0009026 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0009026 DOVES LOOM
http://www.gamuts.net/entity#Costello_syndrome GAMUTS LOOM
http://nanbyodata.jp/ontology/NANDO_1200463 NANDO LOOM
http://purl.bioontology.org/ontology/MESH/D056685 MESH LOOM