Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
Preferred Name

Dermatofibrosarcoma protuberans

Synonyms

DFSP

Definitions

Dermatofibrosarcoma protuberans (DFSP) is a rare infiltrating soft tissue sarcoma, generally of low grade malignancy, arising from the dermis of the skin and characteristically associated with a specific chromosomal translocation t(17;22).

ID

http://www.orpha.net/ORDO/Orphanet_31112

alternative_term

DFSP

definition

Dermatofibrosarcoma protuberans (DFSP) is a rare infiltrating soft tissue sarcoma, generally of low grade malignancy, arising from the dermis of the skin and characteristically associated with a specific chromosomal translocation t(17;22).

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31112

has_age_of_onset

All ages

has_inheritance

Not applicable

hasDbXref

MedDRA:10057070

UMLS:C0392784

ICD-10:C49.9

MeSH:C538219

ICD-11:2B53.Y

OMIM:607907

label

Dermatofibrosarcoma protuberans

notation

ORPHA:31112

part_of

http://www.orpha.net/ORDO/Orphanet_271832

http://www.orpha.net/ORDO/Orphanet_79386

http://www.orpha.net/ORDO/Orphanet_183487

http://www.orpha.net/ORDO/Orphanet_3394

prefixIRI

ORDO:Orphanet_31112

prefLabel

Dermatofibrosarcoma protuberans

present_in

Europe AND has_point_prevalence_average_value : 10.0 AND has_point_prevalence_range : 1-5 / 10 000

treeView

http://www.orpha.net/ORDO/Orphanet_271832

http://www.orpha.net/ORDO/Orphanet_79386

http://www.orpha.net/ORDO/Orphanet_183487

http://www.orpha.net/ORDO/Orphanet_3394

subClassOf

http://www.orpha.net/ORDO/Orphanet_377788

http://www.orpha.net/ORDO/Orphanet_557493

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Delete Mapping To Ontology Source
http://www.orpha.net/ORDO/Orphanet_31112 EFO SAME_URI
http://www.orpha.net/ORDO/Orphanet_31112 CCONT SAME_URI
http://www.orpha.net/ORDO/Orphanet_31112 HSPO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0011934 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_3507 DOID LOOM
rgo:13069 GAMUTS LOOM
rgo:13069 GAMUTS LOOM
http://purl.obolibrary.org/obo/MONDO_0011934 EFO LOOM
http://purl.obolibrary.org/obo/DOID_3507 DOID LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0392784 OCHV LOOM
http://purl.obolibrary.org/obo/MONDO_0011934 DOVES LOOM
http://purl.bioontology.org/ontology/PDQ/CDR0000474442 PDQ LOOM
http://purl.bioontology.org/ontology/RCTV2/B339.00 RCTV2 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C4683 NCIT LOOM
http://purl.obolibrary.org/obo/DERMO_0001155 DERMO LOOM
http://www.owl-ontologies.com/unnamed.owl#RID17036 DERMLEX LOOM
http://purl.bioontology.org/ontology/OMIM/607907 OMIM LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/76594008 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/MEDDRA/10057070 MEDDRA LOOM
http://purl.obolibrary.org/obo/NCIT_C4683 BERO LOOM
http://purl.obolibrary.org/obo/DOID_3507 BAO LOOM
http://purl.obolibrary.org/obo/DOID_3507 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_3507 ODAE LOOM
http://purl.obolibrary.org/obo/DOID_3507 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_3507 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_3507 FNS-H LOOM
http://purl.bioontology.org/ontology/RCD/Xa0D9 RCD LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Dermatofibrosarcoma_Protuberans CSEO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/276799004 SNOMEDCT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C538219 RH-MESH LOOM
http://www.gamuts.net/entity#dermatofibrosarcoma_protuberans GAMUTS LOOM
http://www.limics.org/hrdo/rdfns#pat_id_9285 HRDO LOOM
http://www.gamuts.net/entity#dermatofibrosarcoma_protuberans GAMUTS REST
http://www.gamuts.net/entity#dermatofibrosarcoma_protuberans GAMUTS REST
http://www.gamuts.net/entity#dermatofibrosarcoma_protuberans GAMUTS REST