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Disease Ontology Term: chromosome 2q37 deletion syndrome

DO ID
DOID:0111704
Description
A chromosomal deletion syndrome characterized by variable features, likely resulting from different sized deletions, including; brachydactyly type E, short stature, mild to moderate intellectual disability, behavioral abnormalities, and dysmorphic facial features that has_material_basis_in heterozygosity for a contiguous deletion of several genes on chromosome 2q37.2.
Synonyms
2q37 microdeletion syndrome, Albright hereditary osteodystrophy-like syndrome, Albright hereditary osteodystrophy type 3, Albright's hereditary osteodystrophy-like syndrome, BDMR, Brachydactyly-intellectual disability syndrome, Del(2)(q37), deletion 2q37, monosomy 2q37qter
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