Health_ontology

Last uploaded: July 4, 2024
Preferred Name

Hailey-Hailey disease
Synonyms

BENIGN CHRONIC PEMPHIGUS

Pemphigus, Benign Familial

Definitions

A pemphigus that is characterized by recurring blistering most commonly occurring in the folds of the skin, particularly the groin and axillary regions, and has_material_basis_in mutations in the ATP2C1 gene that result in loss of adhesion within the skin. Other sites of the body, such as the neck, perianal, and submammary regions, may likewise be affected. OMIM mapping confirmed by DO. [SN].

ID

http://purl.obolibrary.org/obo/DOID_0050429

comment

OMIM mapping confirmed by DO. [SN].

alternative label

BENIGN CHRONIC PEMPHIGUS

Pemphigus, Benign Familial

database_cross_reference

UMLS_CUI:C0085106

SNOMEDCT_US_2023_03_01:79468000

MESH:D016506

ICD10CM:Q82.8

GARD:6559

MIM:169600

NCI:C82865

definition

A pemphigus that is characterized by recurring blistering most commonly occurring in the folds of the skin, particularly the groin and axillary regions, and has_material_basis_in mutations in the ATP2C1 gene that result in loss of adhesion within the skin. Other sites of the body, such as the neck, perianal, and submammary regions, may likewise be affected.

disease has location

http://purl.obolibrary.org/obo/UBERON_8410021

http://purl.obolibrary.org/obo/UBERON_0015474

has exact synonym

BENIGN CHRONIC PEMPHIGUS

Pemphigus, Benign Familial

has material basis in

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

has_obo_namespace

disease_ontology

id

DOID:0050429

in_subset

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

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

label

Hailey-Hailey disease

notation

DOID:0050429

prefLabel

Hailey-Hailey disease

subClassOf

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

http://purl.obolibrary.org/obo/DOID_9182

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Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_0050429 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_0050429 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_0050429 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_0050429 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_0050429 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_0050429 FNS-H SAME_URI
http://purl.obolibrary.org/obo/DOID_0050429 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0008218 MONDO LOOM
http://www.orpha.net/ORDO/Orphanet_2841 ORDO LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15456 DERMLEX LOOM
http://purl.bioontology.org/ontology/OMIM/169600 OMIM LOOM
http://identifiers.org/omim/169600 REXO LOOM
http://identifiers.org/omim/169600 GEXO LOOM
http://identifiers.org/omim/169600 RETO LOOM
http://purl.obolibrary.org/obo/DERMO_0000065 DERMO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0085106 OCHV LOOM
http://purl.bioontology.org/ontology/MEDDRA/10019029 MEDDRA LOOM
http://purl.obolibrary.org/obo/OMIM_169600 CCO LOOM
http://purl.obolibrary.org/obo/MONDO_0008218 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0008218 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0008218 DOVES LOOM
http://purl.obolibrary.org/obo/DOID_0050429 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0050429 BAO LOOM
http://purl.obolibrary.org/obo/DOID_0050429 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0050429 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0050429 FNS-H LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_0050429 NATPRO LOOM
http://purl.jp/bio/4/id/200906045415432569 IOBC LOOM
http://purl.bioontology.org/ontology/RCTV2/PH33100 RCTV2 LOOM