Preferred Name

Pachyonychia congenita

Synonyms

PC

Jadassohn-Lewandowsky, síndrome de

Síndrome de Jadassohn-Lewandowsky

ID

http://www.limics.org/hrdo/rdfns#pat_id_2169

ageOfDeath

Normal

Normal

Normal

Normale

Normal

Normal

Normal

ageOfOnset

Variable

Variabile

Variabel

Variable

Variable

Variável

Variable

altLabel

PC

PC

PC

Jadassohn-Lewandowsky, síndrome de

Síndrome de Jadassohn-Lewandowsky

PC

PC

id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Pachyonychia+congenita%5Btw%5D+AND+%28%22humans%22%5BMeSH+Terms%5D+OR+humans%5BText+Word%5D%29

id_MeSH

D053549

id_MIM

167200

167210

260130

id_OMS

Q84.5

id_Orpha

2309

id_SNOMEDCT

39427000

id_UMLS

C0265334

inheritance

Autosomal dominant

Autosomique dominant

Autosomal dominant

Autosomica dominante

Autosómico dominate

Autosomal-dominant

Autossómica dominante

patType

disease

prefixIRI

hrdo:pat_id_2169

prefLabel

Pachionichia congenita

Pachyonychie congénitale

Paquioniquia congénita

Pachyonychia congenita

Paquioniquia congénita

Pachyonychia congenita

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_11

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0016471 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0016471 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_0050449 DOID LOOM
http://www.phoc.org.cn/pmo/class/PMO_00039297 PMAPP-PMO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Pachyonychia_Congenita CSEO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.850.250.856 RH-MESH LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15148 DERMLEX LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.804.350.856 RH-MESH LOOM
http://www.gamuts.net/entity#pachyonychia_congenita GAMUTS LOOM
http://purl.bioontology.org/ontology/MEDDRA/10080088 MEDDRA LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84986 NCIT LOOM
http://www.orpha.net/ORDO/Orphanet_2309 ORDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.831.350.856 RH-MESH LOOM
http://purl.obolibrary.org/obo/NCIT_C84986 BERO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.827.250.856 RH-MESH LOOM
http://purl.obolibrary.org/obo/OMIT_0025437 OMIT LOOM
http://purl.obolibrary.org/obo/DERMO_0001612 DERMO LOOM
http://purl.bioontology.org/ontology/RCD/XE1MU RCD LOOM
http://purl.bioontology.org/ontology/MESH/D053549 MESH LOOM
http://purl.obolibrary.org/obo/DOID_0050449 BAO LOOM
http://purl.obolibrary.org/obo/DOID_0050449 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0050449 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0050449 FNS-H LOOM
http://purl.jp/bio/4/id/200906005018288123 IOBC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D053549 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0016471 DOVES LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.529.594 RH-MESH LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_0050449 NATPRO LOOM