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Mondo Disease Ontology
Last uploaded:
December 3, 2024
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| Preferred Name | autosomal anomaly | |
| Synonyms |
chromosomal anomaly of autosome autosome chromosomal anomaly |
|
| Definitions |
Chromosomal disorder in which the chromosomal anomaly involves an autosome. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0020049 |
|
| database_cross_reference |
GARD:19417 UMLS:C5681496 MEDGEN:1843454 Orphanet:98127
|
|
| definition |
Chromosomal disorder in which the chromosomal anomaly involves an autosome.
|
|
| has_exact_synonym |
chromosomal anomaly of autosome autosome chromosomal anomaly
|
|
| id |
MONDO:0020049
|
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#disease_grouping |
|
| label |
autosomal anomaly
|
|
| notation |
MONDO:0020049
|
|
| prefLabel |
autosomal anomaly
|
|
| skos_exactMatch |
http://identifiers.org/medgen/1843454 |
|
| treeView | ||
| subClassOf |
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