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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_2023_03_01:205803001

UMLS_CUI:C0587248

GARD:1550

NCI:C84652
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.
has exact synonym

Faciocutaneoskeletal Syndrome

FCS SYNDROME
has material basis in

http://purl.obolibrary.org/obo/GENO_0000147
has_obo_namespace

disease_ontology
id

DOID:0050469
in_subset

http://purl.obolibrary.org/obo/doid#NCIthesaurus

http://purl.obolibrary.org/obo/doid#DO_rare_slim
label

Costello syndrome
notation

DOID:0050469
prefLabel

Costello syndrome
subClassOf

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

http://purl.obolibrary.org/obo/DOID_0050736
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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 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_0050469 HHEAR 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 BAO LOOM
http://purl.obolibrary.org/obo/DOID_0050469 HHEAR 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