loading...| Preferred Name |
polymalformative genetic syndrome with increased risk of developing cancer |
|
| Synonyms |
PGSIRC |
|
| 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://purl.obolibrary.org/obo/MONDO_0015945 |
|
| database_cross_reference |
UMLS:CN200541 Orphanet:183422 |
|
| exactMatch | ||
| has exact synonym |
PGSIRC |
|
| id |
MONDO:0015945 |
|
| imported from | ||
| in_subset |
http://purl.oboInOwllibrary.org/oboInOwl/mondo#ordo_group_of_disorders |
|
| label |
polymalformative genetic syndrome with increased risk of developing cancer |
|
| notation |
MONDO:0015945 |
|
| prefLabel |
polymalformative genetic syndrome with increased risk of developing cancer |
|
| textual 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. |
|
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0015945 | MONDO | SAME_URI | |
| http://www.orpha.net/ORDO/Orphanet_183422 | EFO | LOOM | |
| http://www.orpha.net/ORDO/Orphanet_183422 | ORDO | LOOM | |
| http://www.limics.org/hrdo/rdfns#pat_id_18230 | HRDO | LOOM |