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Metadata
ID DOID:0060406
Name chromosome 18p deletion syndrome
Definition A chromosomal deletion syndrome that has_material_basis_in partial or complete deletion of the short arm of chromosome 18.
https://pubmed.ncbi.nlm.nih.gov/16691587
Xrefs

GARD:8631

MESH:C538309

NCI:C84521

OMIM:146390

ORDO:1598

SNOMEDCT_US_2020_03_01:205632001

UMLS_CUI:C0432442

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

18p- syndrome [EXACT]

De Grouchy syndrome [EXACT]

monosomy 18p [EXACT]

Parent Relationships

is_a chromosomal deletion syndrome

is_a autosomal dominant disease

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