partial deletion of the long arm of chromosome 2
http://purl.obolibrary.org/obo/MONDO_0016901
Chromosome 2q 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 2. 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 2q 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:0003744 ]
Term info
- MESH:C538315 (MONDO:equivalentTo)
- GARD:0003744 (MONDO:equivalentTo)
- UMLS:C0795804 (Orphanet:262010)
- Orphanet:262010 (MONDO:equivalentTo)
gard_rare, disease_grouping, ordo_group_of_disorders
https://github.com/monarch-initiative/mondo/issues/3664
Chromosome 2q 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 2. 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 2q 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_262010, http://identifiers.org/mesh/C538315, http://linkedlifedata.com/resource/umls/id/C0795804
partial monosomy of chromosome 2q, partial deletion of chromosome 2q, partial deletion of the long arm of chromosome type 2, partial monosomy of the long arm of chromosome 2
2q deletion, 2q monosomy, deletion 2q, monosomy 2q, partial monosomy 2q, chromosome 2q deletion
MONDO:0016901