loading...| Preferred Name | chromosome 17p deletion | |
| Synonyms |
monosomy 17p interstitial deletion 17p deletion 17p syndrome 17p deletion 17p- syndrome 17p monosomy loss of chromosome 17p deletion 17p partial monosomy 17p chromosome 17p deletion syndrome del(17p) chromosome 17p deletion partial monosomy of the short arm of chromosome type 17 partial deletion of the short arm of chromosome 17 partial monosomy of chromosome 17p partial monosomy of the short arm of chromosome 17 partial deletion of chromosome 17p |
|
| Definitions |
A cytogenetic abnormality that refers to the allelic loss of all or part of the short arm of chromosome 17. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0022754 |
|
| database_cross_reference |
UMLS:C5679671 MESH:C538045 MEDGEN:1842221 Orphanet:261965 NCIT:C36499 icd11.foundation:527787991 GARD:20817 |
|
| definition |
A cytogenetic abnormality that refers to the allelic loss of all or part of the short arm of chromosome 17. |
|
| has_exact_synonym |
chromosome 17p deletion partial monosomy of the short arm of chromosome type 17 partial deletion of the short arm of chromosome 17 partial monosomy of chromosome 17p partial monosomy of the short arm of chromosome 17 partial deletion of chromosome 17p |
|
| has_related_synonym |
monosomy 17p interstitial deletion 17p deletion 17p syndrome 17p deletion 17p- syndrome 17p monosomy loss of chromosome 17p deletion 17p partial monosomy 17p chromosome 17p deletion syndrome del(17p) |
|
| IAO_0000233 | ||
| id |
MONDO:0022754 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping |
|
| label |
chromosome 17p deletion |
|
| notation |
MONDO:0022754 |
|
| preferred label |
chromosome 17p deletion |
|
| prefLabel |
chromosome 17p deletion |
|
| skos_exactMatch |
http://identifiers.org/mesh/C538045 http://identifiers.org/medgen/1842221 http://linkedlifedata.com/resource/umls/id/C5679671 http://purl.obolibrary.org/obo/Orphanet_261965 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/527787991 |
|
| skos_relatedMatch | ||
| subClassOf | ||
| excluded_subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0022754 | MONDO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0022754 | EFO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0022754 | DOVES | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0022754 | MONDO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0022754 | EFO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0022754 | DOVES | LOOM |