OBO ID: DOID:0050460
Term Name: Wolf-Hirschhorn syndrome Search Ontology:
Synonyms:
  • 4p deletion syndrome
  • chromosome 4p16.3 deletion syndrome
  • PITT SYNDROME
  • Pitt-Rogers-Danks Syndrome
Definition: A chromosomal deletion syndrome that is characterized by distinct craniofacial features, hypotonia and intellectual disability and has_material_basis_in a microdeletion of the short arm of chromosome 4. https://rarediseases.info.nih.gov/diseases/7896/wolf-hirschhorn-syndrome
References:
  • GARD:7896
  • ICD10CM:Q93.3
  • MESH:D054877
  • NCI:C35528
  • OMIM:194190
  • ORDO:280
  • SNOMEDCT_US_2021_09_01:17122004
  • UMLS_CUI:C0796117
  • UMLS_CUI:C1956097
Ontology: Human Disease   (DOID:0050460)
OTHER Wolf-Hirschhorn syndrome PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (1)