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Mondo Disease Ontology
| Preferred Name | partial deletion of the long arm of chromosome 8 | |
| Synonyms |
8q monosomy monosomy 8q deletion 8q partial monosomy 8q chromosome 8q deletion 8q deletion partial monosomy of the long arm of chromosome 8 partial monosomy of chromosome 8q partial deletion of the long arm of chromosome type 8 partial deletion of chromosome 8q |
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| Definitions |
Chromosome 8q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 8. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 8q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0016907 |
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| database_cross_reference |
UMLS:C0795828 icd11.foundation:653068448 Orphanet:262065 GARD:3770 MESH:C537828 MEDGEN:208638
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| definition |
Chromosome 8q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 8. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 8q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.
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| has_exact_synonym |
partial monosomy of the long arm of chromosome 8 partial monosomy of chromosome 8q partial deletion of the long arm of chromosome type 8 partial deletion of chromosome 8q
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| has_related_synonym |
8q monosomy monosomy 8q deletion 8q partial monosomy 8q chromosome 8q deletion 8q deletion
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| IAO_0000233 | ||
| id |
MONDO:0016907
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| 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 |
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| label |
partial deletion of the long arm of chromosome 8
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| notation |
MONDO:0016907
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| prefLabel |
partial deletion of the long arm of chromosome 8
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| skos_exactMatch |
http://identifiers.org/medgen/208638 http://identifiers.org/mesh/C537828 http://purl.obolibrary.org/obo/Orphanet_262065 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/653068448 |
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| terms_conformsTo |
http://purl.obolibrary.org/obo/mondo/patterns/chromosomal_region_deletion.yaml |
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| treeView | ||
| subClassOf |
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