Cigarette Smoke Exposure Ontology

Last uploaded: July 10, 2014
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Preferred Name

Xeroderma Pigmentosum
Synonyms
ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Xeroderma_Pigmentosum
DEFINITION

An inherited skin disorder characterized by photosensitivity with severe sunburn in infancy, the development of numerous pigmented spots resembling freckles, larger atrophic lesions associated with telangiectasis, and multiple solar keratoses. Transmitted in an autosomal recessive manner, xeroderma pigmentosa involves a defect in nucleotide excision repair (NER), leading to deficient repair of DNA damaged by UV radiation and chromosome breakage. Individuals with this disease develop multiple malignant cutaneous neoplasms at an early age and may suffer from severe ophthalmic and neurologic abnormalities.
FULL_SYN

Angioma Pigmentosum Atrophicum

Xeroderma Pigmentosum Syndrome

Kaposi Disease

Kaposi Dermatosis

Xeroderma of Kaposi

Atrophoderma Pigmentosum

Melanosis Lenticularis Progressiva

Pigmented Epitheliomatosis
isDefinedBy

An inherited skin disorder characterized by photosensitivity with severe sunburn in infancy, the development of numerous pigmented spots resembling freckles, larger atrophic lesions associated with telangiectasis, and multiple solar keratoses. Transmitted in an autosomal recessive manner, xeroderma pigmentosa involves a defect in nucleotide excision repair (NER), leading to deficient repair of DNA damaged by UV radiation and chromosome breakage. Individuals with this disease develop multiple malignant cutaneous neoplasms at an early age and may suffer from severe ophthalmic and neurologic abnormalities.
label

Xeroderma Pigmentosum
prefixIRI

Thesaurus:Xeroderma_Pigmentosum
prefLabel

Xeroderma Pigmentosum
Synonym

Angioma Pigmentosum Atrophicum

Xeroderma Pigmentosum Syndrome

Kaposi Disease

Kaposi Dermatosis

Xeroderma of Kaposi

Atrophoderma Pigmentosum

Melanosis Lenticularis Progressiva

Pigmented Epitheliomatosis
subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Cutaneous_Precancerous_Condition
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http://purl.obolibrary.org/obo/MONDO_0019600 MONDO LOOM
http://nanbyodata.jp/ontology/NANDO_2100286 NANDO LOOM
http://nanbyodata.jp/ontology/NANDO_2201002 NANDO LOOM
http://nanbyodata.jp/ontology/NANDO_1200608 NANDO LOOM
http://purl.obolibrary.org/obo/MONDO_0019600 EFO LOOM
rgo:29401 GAMUTS LOOM
http://purl.obolibrary.org/obo/DOID_0050427 CLO LOOM
http://purl.obolibrary.org/obo/DOID_0050427 DOID 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://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 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://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
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://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 DTO LOOM
http://purl.obolibrary.org/obo/DOID_0050427 BAO LOOM
http://purl.obolibrary.org/obo/DOID_0050427 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0050427 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0050427 FNS-H 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