Preferred Name

Costello Syndrome

Synonyms
Definitions

A genetic syndrome caused by mutations in the HRAS gene. It is characterized by developmental delay, mental retardation, loose skin folds, cardiomyopathy, tachycardia, and structural heart defects. Patients are at an increased risk of developing benign or malignant neoplasms.

ID

http://purl.obolibrary.org/obo/NCIT_C84652

ALT_DEFINITION

An autosomal dominant syndrome caused by mutations in the HRAS gene, encoding GTPase HRas, a signaling molecule involved in control of cell growth and division. The condition is characterized by coarse facial features, loose skin folds, developmental delays, hypotonia, multiple cardiac problems (structural heart anomalies, hypertrophic cardiomyopathy), short stature, hyperinsulinism, and an increased risk for development of neoplasia.

code

C84652

Contributing_Source

Cellosaurus

CCPS

NICHD

PCDC

definition

A genetic syndrome caused by mutations in the HRAS gene. It is characterized by developmental delay, mental retardation, loose skin folds, cardiomyopathy, tachycardia, and structural heart defects. Patients are at an increased risk of developing benign or malignant neoplasms.

in_subset

http://purl.obolibrary.org/obo/NCIT_C90259

http://purl.obolibrary.org/obo/NCIT_C186341

http://purl.obolibrary.org/obo/NCIT_C177516

http://purl.obolibrary.org/obo/NCIT_C118467

http://purl.obolibrary.org/obo/NCIT_C177281

http://purl.obolibrary.org/obo/NCIT_C165258

http://purl.obolibrary.org/obo/NCIT_C186315

label

Costello Syndrome

Preferred_Name

Costello Syndrome

prefixIRI

NCIT:C84652

prefLabel

Costello Syndrome

Related_To_Genetic_Biomarker

http://purl.obolibrary.org/obo/NCIT_C17060

Semantic_Type

Disease or Syndrome

UMLS_CUI

C0587248

subClassOf

http://purl.obolibrary.org/obo/NCIT_C179667

http://purl.obolibrary.org/obo/NCIT_C35561

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http://purl.obolibrary.org/obo/MONDO_0009026 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0009026 EFO LOOM
http://nanbyodata.jp/ontology/NANDO_2200971 NANDO LOOM
http://purl.obolibrary.org/obo/DOID_0050469 DOID LOOM
http://nanbyodata.jp/ontology/NANDO_1200463 NANDO 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://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://purl.bioontology.org/ontology/OMIM/218040 OMIM LOOM
http://purl.obolibrary.org/obo/DOID_0050469 DTO 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 DOVES LOOM
http://www.gamuts.net/entity#Costello_syndrome GAMUTS LOOM
http://purl.bioontology.org/ontology/MESH/D056685 MESH LOOM