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DO Term : chromosome 1p36 deletion syndrome [DOID:0060410] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A chromosomal deletion syndrome that has_material_basis_in by deletion of the chromosome 1p36 region and is characterized by severe intellectual disability, a small head, deep-set eyes with straight eyebrows, midface hypoplasia, a broad, flat nose, a pointed chin and low-set ears.
  • synonyms:
  • deletion 1p36,
  • monosomy 1p36,
  • 607872,
  • 1p36 deletion syndrome,
  • GARD:6082,
  • MESH:C535362,
  • NCI:C74983,
  • OMIM:607872,
  • UMLS_CUI:C1842870,
  • ORDO:1606,
  • SNOMEDCT_US_2023_03_01:699306003,
  • subtelomeric 1p36 deletion
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Disease

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Ontology

Ontology Term --> All ancestors

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Ontology Term --> Direct children

Ontology Term --> Direct parents