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Metadata
ID DOID:0060407
Name chromosome 18q deletion syndrome
Definition A chromosomal deletion syndrome that has_material_basis_in a terminal deficiency or macrodeletion that is characterized by mental retardation and congenital malformations.
https://ghr.nlm.nih.gov/condition/distal-18q-deletion-syndrome, https://ghr.nlm.nih.gov/condition/proximal-18q-deletion-syndrome
Xrefs

ICD10CM:Q93.5

MESH:C536580

OMIM:601808

ORDO:1600

Subsets

DO_rare_slim

Synonyms

18q- syndrome [EXACT]

deletion 18q [EXACT]

monosomy 18q [EXACT]

Parent Relationships

is_a chromosomal deletion syndrome

is_a autosomal dominant disease

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