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partial deletion of the long arm of chromosome 4

Go to external page http://purl.obolibrary.org/obo/MONDO_0016903

Chromosome 4q deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the long arm (q) of chromosome 4 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Common features shared by many people with this deletion includedistinctive craniofacial features, skeletal abnormalities, heart defects, intellectual disability, developmental delay, and short stature. Most cases are not inherited, although affectedpeople can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. [ GARD:0001340 ]

Synonyms: partial monosomy of chromosome 4q partial deletion of the long arm of chromosome type 4 partial monosomy of the long arm of chromosome 4 partial deletion of chromosome 4q

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:C537639 (MONDO:equivalentTo)
  • icd11.foundation:855319857 (https://orcid.org/0000-0001-5208-3432)
  • Orphanet:262029 (MONDO:equivalentTo)
  • MEDGEN:468967 (MONDO:equivalentTo)
  • GARD:1340 (MONDO:GARD)
  • UMLS:C0265404 (MONDO:equivalentTo)
Subsets

gard_rare, disease_grouping, rare, ordo_group_of_disorders

IAO 0000233

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

exactMatch

http://identifiers.org/mesh/C537639

http://www.orpha.net/ORDO/Orphanet_262029

http://linkedlifedata.com/resource/umls/id/C0265404

http://identifiers.org/medgen/468967

has related synonym

chromosome 4q deletion

partial monosomy 4q

monosomy 4q

4q monosomy

4q deletion

deletion 4q

id

MONDO:0016903

Term relations