BioAssay Ontology

Last uploaded: February 21, 2024
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

SNOMEDCT_US_2020_03_01:39427000

UMLS_CUI:C1706595

UMLS_CUI:C1721007

MESH:D053549

UMLS_CUI:C0265334

GARD:10753

NCI:C84986

ORDO:2309

has exact synonym

Pachyonychia Congenita Type 1

Jadassohn-Lewandowsky Syndrome

PACHYONYCHIA CONGENITA, JADASSOHN-LEWANDOWSKY TYPE

Jackson-Lawler Type Pachyonychia Congenita

has_obo_namespace

disease_ontology

id

DOID:0050449

imported from

http://purl.obolibrary.org/obo/doid.owl

in_subset

http://purl.oboInOwllibrary.org/oboInOwl/doid#NCIthesaurus

label

pachyonychia congenita

notation

DOID:0050449

prefLabel

pachyonychia congenita

textual 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.

subClassOf

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

http://purl.obolibrary.org/obo/DOID_225

Delete Subject Author Type Created
No notes to display
Create mapping

Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_0050449 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_0050449 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_0050449 NIFSTD 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 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

The BioAssay Ontology integrates with OntoloBridge, allowing community users to suggest additions to the public ontology. Complete the template below to submit a term request directly to the ontology maintainer.

Term Label (required)
Suggested term name. If a term can be described with multiple synonyms, only list the preferred name here.
Example: tissue-based format

Term description (required)
A brief definition, description, or usage of your suggested term. Additional term synonyms may be listed in this section.
Example: Involves the use of a tissue derived from a living organism and is a heterogeneous assay type.

Superclass (required)
The parent term of the suggested term. The parent term should be an existing entry of the current ontology. The superclass can be selected directly from the 'Classes' viewer on Bioportal's left tree navigation.
Example: assay format

References (optional)
Provide evidence for the existence of the requested term such as PMIDs of papers or links to other resources that describe the term.

Justification (optional)
Provide any additional information about the requested term here.

Request New Term