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DO Term : chromosome 3q13.31 deletion syndrome [DOID:0060418] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 3q13.31 region and that is characterized by marked developmental delay, characteristic facies with a short philtrum and protruding lips, and abnormal male genitalia.
  • synonyms:
  • MESH:C536808,
  • 615433,
  • OMIM:615433,
  • 3q13 microdeletion syndrome,
  • UMLS_CUI:C2931338,
  • ORDO:1621,
  • monosomy 3q13,
  • SNOMEDCT_US_2023_03_01:726705007
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents