OBO ID: DOID:0111704
Term Name: chromosome 2q37 deletion syndrome Search Ontology:
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
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. (4)
References:
Ontology: Human Disease   ( DOID:0111704 )
Relationships
is a type of:
OTHER chromosome 2q37 deletion syndrome PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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