Mondo Disease Ontology - obsolete polymalformative genetic syndrome with increased risk of developing cancer - Classes | NCBO BioPortal

Mondo Disease Ontology

Last uploaded: November 25, 2024

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Preferred Name	obsolete polymalformative genetic syndrome with increased risk of developing cancer
Synonyms	PGSIRC
Definitions	OBSOLETE. 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. Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: hereditary neoplastic syndrome'
ID	http://purl.obolibrary.org/obo/MONDO_0015945
Obsolete	true
comment	Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: hereditary neoplastic syndrome'
consider	MONDO:0015356
database_cross_reference	Orphanet:183422
definition	OBSOLETE. 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.
deprecated	true
has_exact_synonym	PGSIRC
IAO_0000231	http://purl.obolibrary.org/obo/OMO_0001000
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/3886
id	MONDO:0015945
in_subset	http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_group_of_disorders
label	obsolete polymalformative genetic syndrome with increased risk of developing cancer
notation	MONDO:0015945
prefLabel	obsolete polymalformative genetic syndrome with increased risk of developing cancer
skos_exactMatch	http://purl.obolibrary.org/obo/Orphanet_183422

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	http://purl.obolibrary.org/obo/MONDO_0015945	KTAO	SAME_URI