Metadata | |
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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 | |
Subsets |
DO_rare_slim |
Synonyms |
18q- syndrome [EXACT] deletion 18q [EXACT] monosomy 18q [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |