Human Health Exposure Analysis Resource

Last uploaded: July 19, 2024
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Preferred Name

xeroderma pigmentosum
Synonyms
Definitions

A syndrome that is characterized by a deficiency in the ability to repair ultraviolet damage that has_material_basis_in autosomal recessive inheritance of DNA repair. OMIM mapping confirmed by DO. [SN].
ID

http://purl.obolibrary.org/obo/DOID_0050427
comment

OMIM mapping confirmed by DO. [SN].
database_cross_reference

UMLS_CUI:C0043346

MESH:D014983

SNOMEDCT_US_2023_03_01:44600005

ICD10CM:Q82.1

GARD:7910

NCI:C3452

ORDO:910
definition

A syndrome that is characterized by a deficiency in the ability to repair ultraviolet damage that has_material_basis_in autosomal recessive inheritance of DNA repair.

OMIM mapping confirmed by DO. [SN].
has material basis in

http://purl.obolibrary.org/obo/GENO_0000148
has_obo_namespace

disease_ontology
id

DOID:0050427
in_subset

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

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

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

xeroderma pigmentosum
notation

DOID:0050427
note

A syndrome that is characterized by a deficiency in the ability to repair ultraviolet damage that has_material_basis_in autosomal recessive inheritance of DNA repair.

OMIM mapping confirmed by DO. [SN].
preferred label

xeroderma pigmentosum
prefLabel

xeroderma pigmentosum
subClassOf

http://purl.obolibrary.org/obo/DOID_0050737

http://purl.obolibrary.org/obo/DOID_225
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_0050427 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_0050427 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_0050427 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_0050427 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_0050427 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_0050427 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_0050427 FNS-H SAME_URI
http://purl.obolibrary.org/obo/MONDO_0019600 MONDO LOOM
http://purl.bioontology.org/ontology/RCTV2/PH32200 RCTV2 LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D014983 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.804.936 RH-MESH LOOM
http://nanbyodata.jp/ontology/NANDO_2100286 NANDO LOOM
http://purl.bioontology.org/ontology/PDQ/CDR0000043131 PDQ LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.850.970 RH-MESH LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q82.1 ICD10CM LOOM
http://purl.obolibrary.org/obo/OMIT_0015806 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C04.834.867 RH-MESH LOOM
http://purl.obolibrary.org/obo/NCIT_C3452 BERO LOOM
http://id.nlm.nih.gov/mesh/D014983 MDM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.621.936 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0019600 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0019600 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0019600 DOVES LOOM
http://purl.bioontology.org/ontology/RCD/PH322 RCD LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#13234 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.831.936 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0043346 OCHV LOOM
http://purl.bioontology.org/ontology/CSP/1849-9833 CRISP LOOM
http://purl.bioontology.org/ontology/MEDDRA/10048220 MEDDRA LOOM
http://www.orpha.net/ORDO/Orphanet_910 ORDO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_3253 HRDO LOOM
http://purl.jp/bio/4/id/200906031955899392 IOBC LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3452 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Xeroderma_Pigmentosum CSEO LOOM
http://purl.bioontology.org/ontology/ICD10/Q82.1 ICD10 LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.600.925 RH-MESH LOOM
http://purl.bioontology.org/ontology/MESH/D014983 MESH LOOM
http://www.owl-ontologies.com/unnamed.owl#RID17788 DERMLEX LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.284.975 RH-MESH LOOM
rgo:29401 GAMUTS LOOM
http://purl.obolibrary.org/obo/DERMO_0000384 DERMO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00039310 PMAPP-PMO LOOM
http://localhost/plosthes.2017-1#447 PLOSTHES LOOM
http://nanbyodata.jp/ontology/NANDO_2201002 NANDO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/44600005 SNOMEDCT LOOM
http://www.semanticweb.org/alan/ontologies/2013/8/untitled-ontology-9#Xeroderma_Pigmentosum DLORO LOOM
http://purl.obolibrary.org/obo/DOID_0050427 CLO LOOM
http://purl.obolibrary.org/obo/DOID_0050427 DTO LOOM
http://purl.obolibrary.org/obo/DOID_0050427 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0050427 BAO LOOM
http://purl.obolibrary.org/obo/DOID_0050427 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_0050427 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0050427 FNS-H LOOM
http://nanbyodata.jp/ontology/NANDO_1200608 NANDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.827.970 RH-MESH LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_0050427 NATPRO LOOM
http://www.limics.fr/ontologies/ontolurgences#XerodermaPigmentosum ONTOLURGENCES LOOM
http://vocab.vodan-totafrica.info/vodana-terms/vdiseases/LD27.1 VODANADISEASES LOOM