loading...| Preferred Name |
chromosomal disorder |
| Synonyms |
disorder, chromosome chromosome disorders, autosomal disorders, chromosome disorder, chromosome abnormality disorders, chromosomal chromosome abnormality disorder autosomal chromosome disorders disorder, chromosomal chromosome disorder chromosomal disease chromosomal disorder autosomal chromosome disorder chromosome disorder, autosomal chromosomal disorders chromosome abnormality disorders |
| 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 |
| database_cross_reference |
SCTID:409709004 Orphanet:68335 DOID:0080014 NCIT:C34470 MESH:D025063 ICD10CM:Q90-Q99 ICD9:758.89 |
| 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) |
| exactMatch |
http://identifiers.org/mesh/D025063 http://purl.bioontology.org/ontology/ICD10CM/Q90-Q99 http://purl.obolibrary.org/obo/NCIT_C34470 http://identifiers.org/snomedct/409709004 |
| has characteristic | |
| has_exact_synonym |
disorder, chromosome disorders, chromosome disorders, chromosomal disorder, chromosomal chromosome disorder chromosomal disease chromosomal disorder chromosomal disorders |
| has_related_synonym |
chromosome disorders, autosomal disorder, chromosome abnormality chromosome abnormality disorder autosomal chromosome disorders autosomal chromosome disorder chromosome disorder, autosomal chromosome abnormality disorders |
| id |
MONDO:0019040 |
| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders |
| label |
chromosomal disorder |
| notation |
MONDO:0019040 |
| prefLabel |
chromosomal disorder |
| treeView | |
| subClassOf | |
| excluded subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0019040 | Experimental Factor Ontology / 实验性因素本体 | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0019040 | Experimental Factor Ontology / 实验性因素本体 | SAME_URI |