Experimental Factor Ontology

Last uploaded: October 15, 2019
Preferred Name

Polymalformative genetic syndrome with increased risk of developing cancer

Synonyms

PGSIRC

polymalformative genetic syndrome with increased risk of developing cancer

Definitions

Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases.

ID

http://www.orpha.net/ORDO/Orphanet_183422

database_cross_reference

UMLS:CN200541

MONDO:0015945

definition

Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases.

definition_citation

orphanet

exactMatch

http://purl.obolibrary.org/obo/Orphanet_183422

http://linkedlifedata.com/resource/umls/id/CN200541

has_exact_synonym

PGSIRC

polymalformative genetic syndrome with increased risk of developing cancer

id

Orphanet:183422

in_subset

http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders

label

Polymalformative genetic syndrome with increased risk of developing cancer

notation

Orphanet:183422

prefLabel

Polymalformative genetic syndrome with increased risk of developing cancer

subClassOf

http://www.orpha.net/ORDO/Orphanet_140162

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0015945 MONDO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_18230 HRDO LOOM
http://www.orpha.net/ORDO/Orphanet_183422 CCONT LOOM
http://www.orpha.net/ORDO/Orphanet_183422 CCONT SAME_URI
http://www.orpha.net/ORDO/Orphanet_183422 ORDO LOOM
http://www.orpha.net/ORDO/Orphanet_183422 ORDO SAME_URI