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Metadata
ID DOID:0060412
Name chromosome 1q41-q42 deletion syndrome
Definition A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 1q41-q42 region.
https://pubmed.ncbi.nlm.nih.gov/16736036/
Xrefs

GARD:3738

ICD10CM:Q93.5

MIM:612530

ORDO:250999

Subsets

DO_rare_slim

Synonyms

1q41-q42 microdeletion syndrome [EXACT]

1q41q42 microdeletion syndrome [EXACT]

Parent Relationships

is_a holoprosencephaly

is_a chromosomal deletion syndrome

is_a autosomal genetic disease

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