Preferred Name

Costello syndrome

Synonyms

Facio-cutâneo-esquelético, síndrome

FCS-Syndrom

Sindrome facio-cutaneo-scheletrica

Ritardo mentale - papillomi nasali

FCS, síndrome

Syndrome FCS

Syndrome facio-cutanéo-squelettique

Sindrome FCS

Faciocutaneoskeletal syndrome

ID

http://www.limics.org/hrdo/rdfns#pat_id_574

ageOfOnset

Neonatal/infancy

Neonatale/prima infanzia

Neonatal/infância

Neonatal/infancy

Neonatal / infancia

Néonatal/petite enfance

Neonatal/Kleinkindalter

altLabel

Facio-cutâneo-esquelético, síndrome

FCS-Syndrom

Sindrome facio-cutaneo-scheletrica

Ritardo mentale - papillomi nasali

FCS, síndrome

Syndrome FCS

Syndrome facio-cutanéo-squelettique

Sindrome FCS

Faciocutaneoskeletal syndrome

Intellectual deficit - nasal papillomata

Atraso mental - papilomas nasais

FCS syndrome

Fazio-kutano-skelettales Syndrom

Déficit intellectuel - papillomatose nasale

Síndrome FCS

Síndrome facio-cutâneo-esquelético

Geistige Retardierung - Nasenpapillome

id_MedDRA

10067380

id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Costello+syndrome%5Btw%5D+OR+%28Mental+retardation+AND+papillomat*%5Btw%5D%29

id_MeSH

D056685

id_MIM

218040

id_OMS

Q87.8

id_Orpha

3071

id_SNOMEDCT

309776008

id_UMLS

C0587248

inheritance

Autosomal dominant

Autosomique dominant

Esporádico

Autosomal dominant

Autosomica dominante

Autosómico dominate

Sporadic

Sporadisch

Sporadique

Autosomal-dominant

Sporadica

Sporadic

Autossómica dominante

Esporádica

patType

malformation syndrome

prefixIRI

hrdo:pat_id_574

prefLabel

Síndrome de Costello

Costello syndrome

Syndrome de Costello

Costello-Syndrom

Sindrome di Costello

Síndrome de Costello

prevalence

<1 / 1 000 000

<1 / 1 000 000

<1 / 1 000 000

<1 / 1 000 000

<1 / 1 000 000

<1 / 1 000 000

<1 / 1 000 000

subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_8

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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://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 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