|
DOID:0111704 - chromosome 2q37 deletion syndrome
Disease Ontology Definition: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 type 3, Albright hereditary osteodystrophy-like syndrome, Albright's hereditary osteodystrophy-like syndrome, BDMR, Brachydactyly-intellectual disability syndrome, Del(2)(q37), deletion 2q37, monosomy 2q37qter,
Xenbase Genes
:
hdac4
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
chromosomal deletion syndrome (is_a)