Digital medicine Outcomes Value Set (DOVeS) Ontology

Last uploaded: December 13, 2023
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Preferred Name

pachyonychia congenita
Synonyms

pachyonychia congenita, Jadassohn-Lewandowsky type

Jackson-Lawler type pachyonychia congenita

PC

Jadassohn-Lewandowsky syndrome

pachyonychia congenita syndrome

congenital pachyonychia

pachyonychia congenita type 1
Definitions

Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa.
ID

http://purl.obolibrary.org/obo/MONDO_0016471
has_exact_synonym

pachyonychia congenita, Jadassohn-Lewandowsky type

Jackson-Lawler type pachyonychia congenita

PC

Jadassohn-Lewandowsky syndrome
has_narrow_synonym

pachyonychia congenita type 1
has_related_synonym

pachyonychia congenita syndrome

congenital pachyonychia
label

pachyonychia congenita
prefixIRI

MONDO:0016471
prefLabel

pachyonychia congenita
seeAlso

https://rarediseases.info.nih.gov/diseases/10753/pachyonychia-congenita
textual definition

Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa.
subClassOf

http://purl.obolibrary.org/obo/MONDO_0017672
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http://purl.obolibrary.org/obo/MONDO_0016471 EFO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0016471 MONDO SAME_URI
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://www.limics.org/hrdo/rdfns#pat_id_2169 HRDO 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://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.529.594 RH-MESH LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_0050449 NATPRO LOOM