loading...| Preferred Name | chromosomal anomaly | |
| Synonyms |
chromosome disorders, autosomal disorders, chromosome chromosomal disorder chromosome disorder disorders, chromosomal chromosome disorder, autosomal disorder, chromosomal chromosome Abnormality disorder disorder, chromosome disorder, chromosome Abnormality autosomal chromosome disorder autosomal chromosome disorders chromosome Abnormality disorders chromosomal disorders chromosomal anomaly chromosomal disease |
|
| Definitions |
Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429) |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0019040 |
|
| closeMatch | ||
| database_cross_reference |
MESH:D025063 DOID:0080014 Orphanet:68335 ICD9:758.89 NCIT:C34470 SCTID:409709004 |
|
| exactMatch |
http://identifiers.org/mesh/D002869 http://linkedlifedata.com/resource/umls/id/C0008625 http://identifiers.org/snomedct/409709004 http://www.orpha.net/ORDO/Orphanet_68335 http://purl.obolibrary.org/obo/DOID_0080014 |
|
| has exact synonym |
chromosomal anomaly chromosomal disease |
|
| has modifier | ||
| has related synonym |
chromosome disorders, autosomal disorders, chromosome chromosomal disorder chromosome disorder disorders, chromosomal chromosome disorder, autosomal disorder, chromosomal chromosome Abnormality disorder disorder, chromosome disorder, chromosome Abnormality autosomal chromosome disorder autosomal chromosome disorders chromosome Abnormality disorders chromosomal disorders |
|
| id |
MONDO:0019040 |
|
| imported from | ||
| in_subset |
http://purl.oboInOwllibrary.org/oboInOwl/mondo#ordo_group_of_disorders |
|
| label |
chromosomal anomaly |
|
| notation |
MONDO:0019040 |
|
| prefLabel |
chromosomal anomaly |
|
| textual definition |
Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429) |
|
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0019040 | EFO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0019040 | MONDO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0019040 | EPIO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0019040 | DOVES | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0019040 | EPIO | LOOM | |
| http://www.orpha.net/ORDO/Orphanet_68335 | EFO | LOOM | |
| http://www.limics.org/hrdo/rdfns#pat_id_10474 | HRDO | LOOM |