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Metadata
ID DOID:0111723
Name Jacobsen Syndrome
Definition A chromosomal deletion syndrome that is characterized by growth retardation, psychomotor retardation, distinctive facial features, skeletal abnormalities, and isoimmune thrombocytopenia that has_material_basis_in deletion of terminal chromosome 11q.
https://www.ncbi.nlm.nih.gov/pubmed/4134631
Xrefs

GARD:307

MESH:D054868

MIM:147791

ORDO:2308

Subsets

DO_rare_slim

Synonyms

chromosome 11q deletion syndrome [EXACT]

Jacobsen distal 11q deletion syndrome [EXACT]

partial 11q monosomy syndrome [EXACT]

Parent Relationships

is_a chromosomal deletion syndrome

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