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Wolf-Hirschhorn syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0008684

Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia. [ ]

Term info

Label

Wolf-Hirschhorn syndrome

Synonyms
  • 4p deletion syndrome
  • 4p- syndrome
  • Pitt syndrome
  • Pitt-Rogers-Danks syndrome
  • Wittwer syndrome
  • Wolf-Hirschhorn syndrome
  • Wolf-Hirschhorn syndrome, Isolated cases
  • chromosome 4p16.3 deletion syndrome
  • distal deletion 4p
  • distal monosomy 4p
  • telomeric deletion 4p
database cross reference
Subsets

gard_rare, ordo_malformation_syndrome

closeMatch

http://identifiers.org/meddra/10050361

exactMatch

http://identifiers.org/mesh/D054877, http://purl.obolibrary.org/obo/NCIT_C35528, http://linkedlifedata.com/resource/umls/id/C0796117, http://identifiers.org/snomedct/718226002, http://linkedlifedata.com/resource/umls/id/C1956097, https://omim.org/entry/194190, http://linkedlifedata.com/resource/umls/id/C0796202, http://purl.obolibrary.org/obo/Orphanet_280, http://linkedlifedata.com/resource/umls/id/CN207113, http://purl.obolibrary.org/obo/DOID_0050460

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0005027, http://purl.obolibrary.org/obo/MONDO_0020226, http://purl.obolibrary.org/obo/MONDO_0019589

has related synonym

Wolf syndrome, chromosome 4P16.3 deletion syndrome, microcephaly, IUGR, hypertelorism, ptosis, iris coloboma, hooked nose, external ear dysplasia, psychomotor retardation, WHS, chromosome 4p syndrome, WOLF-Hirschhorn syndrome, 4p syndrome

id

MONDO:0008684

see also

https://rarediseases.info.nih.gov/diseases/7896/wolf-hirschhorn-syndrome, https://github.com/monarch-initiative/mondo/issues/4521