Mondo Disease Ontology

Last uploaded: April 2, 2024
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

UMLS:CN200541

Orphanet:183422

GARD:20259

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

exactMatch

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

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

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#gard_rare

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

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