chromosome 1q deletion
http://purl.obolibrary.org/obo/MONDO_0022756
Chromosome 1q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on thelong arm (q) of chromosome 1. 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 1q 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. [ GARD:0008669 ]
Term info
- Orphanet:262001 (MONDO:equivalentTo)
- UMLS:CN072190 (MONDO:equivalentTo)
- GARD:0008669 (MONDO:equivalentTo)
gard_rare, disease_grouping, ordo_group_of_disorders
https://github.com/monarch-initiative/mondo/issues/3664
Chromosome 1q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on thelong arm (q) of chromosome 1. 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 1q 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.
http://purl.obolibrary.org/obo/Orphanet_262001, http://linkedlifedata.com/resource/umls/id/CN072190
partial deletion of the long arm of chromosome 1, partial monosomy of chromosome 1q, partial deletion of chromosome 1q, partial deletion of the long arm of chromosome type 1, partial monosomy of the long arm of chromosome 1
1q monosomy, deletion 1q, partial monosomy 1q, 1q deletion, monosomy 1q
MONDO:0022756
https://rarediseases.info.nih.gov/diseases/8669/chromosome-1q-deletion