Preferred Name

Wolf-Hirschhorn syndrome

Synonyms

Delezione 4p distale

Distal monosomy 4p

ID

http://www.limics.org/hrdo/rdfns#pat_id_147

ageOfDeath

Adult

Adulto

Adult

Erwachsene

Adulti

Adultos

Adulte

ageOfOnset

Neonatal/infancy

Neonatale/prima infanzia

Neonatal/infância

Neonatal/infancy

Neonatal / infancia

Néonatal/petite enfance

Neonatal/Kleinkindalter

altLabel

Delezione 4p distale

Distal monosomy 4p

Délétion distale 4p

Deletion 4p, distale

Síndrome de Wolf-Hirschorn

Chromosom 4p- Syndrom

Delezione 4p telomerica

Monosomía distal 4p

Deleción distal 4p

Monosomie distale 4p

Wolf-Hirschorn, síndrome de

Síndrome 4p-

Deleción telomérica 4p

Monosomia 4p distale

Syndrome 4p-

Distal deletion 4p

Monossomia 4p

Délétion télomérique 4p

Sindrome 4p-

Monosomie 4p, distale

4p- syndrome

Telomeric deletion 4p

id_MedDRA

10050361

id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Deletion%5Bti%5D+4p%5Bti%5D+OR+4p+syndrome%5Btw%5D+OR+wolf+hirschhorn%5Btw%5D+OR+(chromosome+deletion%5Bmh%5D+chromosome+4%5Bmh%5D)

id_MeSH

C536740

D054877

id_MIM

194190

id_OMS

Q93.3

id_Orpha

280

id_SNOMEDCT

17122004

id_UMLS

C1956097

inheritance

Esporádico

Sporadic

Sporadisch

Sporadique

Sporadica

Sporadic

Esporádica

patType

malformation syndrome

prefixIRI

hrdo:pat_id_147

prefLabel

Síndrome de Wolf-Hirschhorn

Wolf-Hirschhorn syndrome

Deleção 4p

Syndrome de Wolf-Hirschhorn

Sindrome di Wolf-Hirschhorn

Wolf-Hirschhorn-Syndrom

prevalence

1-9 / 100 000

1-9 / 100 000

1-9 / 100 000

1-9 / 100 000

1-9 / 100 000

1-9 / 100 000

1-9 / 100 000

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_0008684 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0008684 EFO LOOM
http://purl.obolibrary.org/obo/DOID_0050460 DOID LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_0050460 NATPRO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10050361 MEDDRA LOOM
http://purl.obolibrary.org/obo/NCIT_C35528 BERO LOOM
http://purl.obolibrary.org/obo/GSSO_006998 GSSO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.944 RH-MESH LOOM
http://purl.bioontology.org/ontology/OMIM/194190 OMIM LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/718226002 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/MESH/D054877 MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00040097 PMAPP-PMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.180.985 RH-MESH LOOM
http://purl.obolibrary.org/obo/DOID_0050460 CLO LOOM
http://purl.obolibrary.org/obo/DOID_0050460 DTO LOOM
http://purl.obolibrary.org/obo/DOID_0050460 BAO LOOM
http://purl.obolibrary.org/obo/DOID_0050460 EPIO LOOM
http://purl.obolibrary.org/obo/DOID_0050460 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0050460 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0050460 FNS-H LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D054877 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C35528 NCIT LOOM
http://purl.obolibrary.org/obo/OMIT_0026071 OMIT LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Wolf-Hirschhorn_Syndrome ESSO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Wolf-Hirschhorn_Syndrome MEPO LOOM
http://www.orpha.net/ORDO/Orphanet_280 ORDO LOOM
http://purl.jp/bio/4/id/200906025850144540 IOBC LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#48924 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.260.985 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0008684 DOVES LOOM