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DO Term : chromosome 2q37 deletion syndrome [DOID:0111704] Disease Ontology

Namespace  disease_ontology Obsolete  false
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,
  • Del(2)(q37),
  • Brachydactyly-intellectual disability syndrome,
  • Albright hereditary osteodystrophy-like syndrome,
  • 600430,
  • monosomy 2q37qter,
  • Albright hereditary osteodystrophy type 3,
  • ORDO:1001,
  • NCI:C129021,
  • BDMR,
  • MESH:C538317,
  • deletion 2q37,
  • OMIM:600430,
  • Albright's hereditary osteodystrophy-like syndrome,
  • SNOMEDCT_US_2023_03_01:702357000,
  • UMLS_CUI:C2931817
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