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Preferred Name

pachyonychia congenita
Synonyms

Pachyonychia Congenita Type 1
Definitions

OMIM mapping confirmed by DO. [SN]. A syndrome that is characterized by hypertrophic nails and hyperkeratosis of the hands and feet and has_material_basis_in gene mutations that result in changes in keratin.
ID

http://purl.obolibrary.org/obo/DOID_0050449
comment

OMIM mapping confirmed by DO. [SN].
database_cross_reference

OMIM:PS167200

UMLS_CUI:C1706595

UMLS_CUI:C1721007

MESH:D053549

SNOMEDCT_US_2023_03_01:39427000

UMLS_CUI:C0265334

GARD:10753

NCI:C84986

ORDO:2309
definition

A syndrome that is characterized by hypertrophic nails and hyperkeratosis of the hands and feet and has_material_basis_in gene mutations that result in changes in keratin.
has exact synonym

Pachyonychia Congenita Type 1

Jadassohn-Lewandowsky Syndrome

PACHYONYCHIA CONGENITA, JADASSOHN-LEWANDOWSKY TYPE

Jackson-Lawler Type Pachyonychia Congenita
has material basis in

http://purl.obolibrary.org/obo/GENO_0000147
has_obo_namespace

disease_ontology
id

DOID:0050449
in_subset

http://purl.obolibrary.org/obo/doid#NCIthesaurus

http://purl.obolibrary.org/obo/doid#DO_rare_slim
label

pachyonychia congenita
notation

DOID:0050449
prefLabel

pachyonychia congenita
subClassOf

http://purl.obolibrary.org/obo/DOID_0050736

http://purl.obolibrary.org/obo/DOID_225
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_0050449 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_0050449 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_0050449 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_0050449 FNS-H 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 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