BioAssay Ontology

Last uploaded: February 21, 2024
Preferred Name

Costello syndrome

Synonyms

Faciocutaneoskeletal Syndrome

Definitions

OMIM mapping confirmed by DO. [SN]. A RASopathy characterized by craniofacial dysmorphology, cardiac defects, mild mental retardation, and high birth weight followed by a failure to thrive and developmental delays.

ID

http://purl.obolibrary.org/obo/DOID_0050469

comment

OMIM mapping confirmed by DO. [SN].

database_cross_reference

OMIM:218040

MESH:D056685

SNOMEDCT_US_2020_03_01:205803001

UMLS_CUI:C0587248

GARD:1550

NCI:C84652

has exact synonym

Faciocutaneoskeletal Syndrome

FCS SYNDROME

has_obo_namespace

disease_ontology

id

DOID:0050469

imported from

http://purl.obolibrary.org/obo/doid.owl

in_subset

http://purl.oboInOwllibrary.org/oboInOwl/doid#NCIthesaurus

label

Costello syndrome

notation

DOID:0050469

prefLabel

Costello syndrome

textual definition

A RASopathy characterized by craniofacial dysmorphology, cardiac defects, mild mental retardation, and high birth weight followed by a failure to thrive and developmental delays.

subClassOf

http://purl.obolibrary.org/obo/DOID_0080690

http://purl.obolibrary.org/obo/DOID_0050736

Delete Subject Author Type Created
No notes to display
Create mapping

Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_0050469 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_0050469 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_0050469 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_0050469 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_0050469 FNS-H SAME_URI
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://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://purl.bioontology.org/ontology/OMIM/218040 OMIM LOOM
http://purl.obolibrary.org/obo/DOID_0050469 DTO 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

The BioAssay Ontology integrates with OntoloBridge, allowing community users to suggest additions to the public ontology. Complete the template below to submit a term request directly to the ontology maintainer.

Term Label (required)
Suggested term name. If a term can be described with multiple synonyms, only list the preferred name here.
Example: tissue-based format

Term description (required)
A brief definition, description, or usage of your suggested term. Additional term synonyms may be listed in this section.
Example: Involves the use of a tissue derived from a living organism and is a heterogeneous assay type.

Superclass (required)
The parent term of the suggested term. The parent term should be an existing entry of the current ontology. The superclass can be selected directly from the 'Classes' viewer on Bioportal's left tree navigation.
Example: assay format

References (optional)
Provide evidence for the existence of the requested term such as PMIDs of papers or links to other resources that describe the term.

Justification (optional)
Provide any additional information about the requested term here.

Request New Term