partial deletion of the short arm of chromosome 7

partial deletion of the short arm of chromosome 7

http://purl.obolibrary.org/obo/MONDO_0016889

Chromosome 7p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 7. 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 7p 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:0001346 ]

Synonyms: partial deletion of the short arm of chromosome type 7 partial deletion of chromosome 7p partial monosomy of chromosome 7p partial monosomy of the short arm of chromosome 7

Tree view
Term mappings

This is just here as a test because I lose it

Term information

database cross reference

Orphanet:261911 (MONDO:equivalentTo)
GARD:1346 (MONDO:GARD)
UMLS:C5679668 (MONDO:equivalentTo)
MEDGEN:1826021 (MONDO:equivalentTo)
icd11.foundation:1523142467 (https://orcid.org/0000-0001-5208-3432)

Subsets

gard_rare, otar, disease_grouping, rare, ordo_group_of_disorders

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/3664

exactMatch

http://linkedlifedata.com/resource/umls/id/C5679668

http://www.orpha.net/ORDO/Orphanet_261911

http://identifiers.org/medgen/1826021

has related synonym

chromosome 7p deletion

deletion 7p

7p deletion

partial monosomy 7p

7p monosomy

monosomy 7p

MONDO:0016889

Term relations

Subclass of:

partial deletion of chromosome 7