loading...| Preferred Name |
Polymalformative genetic syndrome with increased risk of developing cancer |
|
| Synonyms |
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| 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. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_183422 |
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| 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. |
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| definition_citation |
Orphanet |
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183422 |
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| has_age_of_onset |
All ages |
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| has_inheritance |
Autosomal recessive Autosomal dominant |
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| hasDbXref |
UMLS:C5680589 |
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| label |
Polymalformative genetic syndrome with increased risk of developing cancer |
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| notation |
ORPHA:183422 Category |
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| prefixIRI |
ORDO:Orphanet_183422 |
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| prefLabel |
Polymalformative genetic syndrome with increased risk of developing cancer |
|
| present_in |
Europe AND has_point_prevalence_average_value : 10.0 AND has_point_prevalence_range : 1-5 / 10 000 |
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| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://www.orpha.net/ORDO/Orphanet_183422 | EFO | SAME_URI | |
| http://www.orpha.net/ORDO/Orphanet_183422 | EFO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0015945 | KTAO | LOOM | |
| http://www.limics.org/hrdo/rdfns#pat_id_18230 | HRDO | LOOM |