ontologies
EFO
Experimental Factor Ontology (EFO)
OWL
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Last submission date April 15, 2024
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ID http://purl.obolibrary.org/obo/MONDO_0019040
http://purl.obolibrary.org/obo/MONDO_0019040
Preferred name

chromosomal disorder
Synonyms

disorder, chromosome
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)

Raw data

oboinowl_gen:inSubset

http://purl.obolibrary.org/obo/mondo#rare

http://purl.obolibrary.org/obo/mondo#orphanet_rare

http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders

http://purl.obolibrary.org/obo/mondo#rare_grouping

http://purl.obolibrary.org/obo/mondo#disease_grouping

http://purl.obolibrary.org/obo/mondo#gard_rare
oboinowl_gen:hasDbXref

SCTID:409709004

GARD:18874

Orphanet:68335

DOID:0080014

NCIT:C34470

MESH:D025063

ICD10CM:Q90-Q99

ICD9:758.89
obo_purl: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

http://purl.obolibrary.org/obo/DOID_0080014

http://purl.obolibrary.org/obo/Orphanet_68335
obo_purl:IAO_0000115

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)
skos:notation

MONDO:0019040
oboinowl_gen:hasExactSynonym

disorder, chromosome

disorders, chromosome

disorders, chromosomal

disorder, chromosomal

chromosome disorder

chromosomal disease

chromosomal disorder

chromosomal disorders
obo_purl:excluded_subClassOf

http://purl.obolibrary.org/obo/MONDO_0019755

http://purl.obolibrary.org/obo/MONDO_0003847
obo_purl:RO_0002162

http://purl.obolibrary.org/obo/NCBITaxon_9606
rdf:type

http://www.w3.org/2002/07/owl#Class
oboinowl_gen:hasRelatedSynonym

chromosome disorders, autosomal

disorder, chromosome abnormality

chromosome abnormality disorder

autosomal chromosome disorders

autosomal chromosome disorder

chromosome disorder, autosomal

chromosome abnormality disorders
oboinowl_gen:id

MONDO:0019040
rdfs:label

chromosomal disorder
rdfs:subClassOf

http://www.ebi.ac.uk/efo/EFO_0000408
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