loading...| Preferred Name | chromosomal disorder | |
| Synonyms |
chromosome abnormality disorder autosomal chromosome disorder chromosome disorder, autosomal chromosome abnormality disorders disorder, chromosome abnormality chromosome disorders, autosomal autosomal chromosome disorders chromosomal disorder chromosomal disorders disorders, chromosome disorders, chromosomal chromosomal disease disorder, chromosomal chromosome disorder disorder, chromosome |
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| 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) |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0019040 |
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| database_cross_reference |
NANDO:2100279 ICD9:758.89 Orphanet:68335 MESH:D025063 ICD10CM:Q90-Q99 MEDGEN:3441 NANDO:2100280 NANDO:1100014 SCTID:409709004 UMLS:C0008626 NCIT:C34470 DOID:0080014 |
|
| 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) |
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| has_exact_synonym |
chromosomal disorder chromosomal disorders disorders, chromosome disorders, chromosomal chromosomal disease disorder, chromosomal chromosome disorder disorder, chromosome |
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| has_related_synonym |
chromosome abnormality disorder autosomal chromosome disorder chromosome disorder, autosomal chromosome abnormality disorders disorder, chromosome abnormality chromosome disorders, autosomal autosomal chromosome disorders |
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| id |
MONDO:0019040 |
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| in taxon | ||
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping http://purl.obolibrary.org/obo/mondo/mondo-base#rare_grouping |
|
| label |
chromosomal disorder |
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| notation |
MONDO:0019040 |
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| preferred label |
chromosomal disorder |
|
| prefLabel |
chromosomal disorder |
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| skos_exactMatch |
http://linkedlifedata.com/resource/umls/id/C0008626 http://identifiers.org/snomedct/409709004 http://purl.bioontology.org/ontology/ICD10CM/Q90-Q99 http://purl.obolibrary.org/obo/DOID_0080014 http://purl.obolibrary.org/obo/NCIT_C34470 http://identifiers.org/medgen/3441 |
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| subClassOf | ||
| excluded_subClassOf |