Preferred Name |
Polymalformative genetic syndrome with increased risk of developing cancer |
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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 |
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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 |