PMO Precision Medicine Ontology

Last uploaded: December 16, 2020
Preferred Name

Costello Syndrome

Synonyms
Definitions

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

ID

http://www.phoc.org.cn/pmo/class/PMO_00039950

Database_Cross_Reference

SNOMEDCT_US:309776008

MTH:NOCODE

RCD:XaC1W

MSH:D056685

NDFRT:N0000181164

SNOMEDCT_US:205803001

DO:DOID:0050469

MDR:10067380

NCI:C84652

OMIM:218040

OMIM:190020

JABL:249

MEDCIN:314887

Definition

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

label

Costello Syndrome

MCID

MC00179171

PMOID

PMO:00039950

prefixIRI

pmo:PMO_00039950

prefLabel

Costello Syndrome

Synonym

Costello syndrome (disorder)

Costello Syndrome [Disease/Finding]

Costello syndrome

faciocutaneoskeletal (FCS) syndrome

CSTLO

COSTELLO SYNDROME

Syndromes, FCS

faciocutaneoskeletal syndrome

FCS Syndromes

FACIOCUTANEOSKELETAL SYNDROME

Syndromes, Faciocutaneoskeletal

FCS SYNDROME

Faciocutaneoskeletal Syndrome

Syndrome, Costello

Syndrome, FCS

Syndrome, Faciocutaneoskeletal

FCS Syndrome

Faciocutaneoskeletal Syndromes

costello syndrome (diagnosis)

Tree Number

T9.3.6.8.12

T9.8.4.52

T9.8.3.1.55

T9.8.3.7.8.12

subClassOf

http://www.phoc.org.cn/pmo/class/PMO_00039944

http://www.phoc.org.cn/pmo/class/PMO_00036558

http://www.phoc.org.cn/pmo/class/PMO_00040090

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Delete Mapping To Ontology Source
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://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