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Wolf-Hirschhorn syndrome

^ 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. [ Orphanet:280 ]

Term info

database cross reference
  • SCTID:718226002 (MONDO:equivalentTo)
  • MedDRA:10050361 (Orphanet:280/e)
  • UMLS:C0796117 (MONDO:equivalentTo)
  • MESH:D054877 (Orphanet:280/e)
  • NCIT:C35528 (MONDO:equivalentTo)
  • Orphanet:280 (OMIM:194190)
  • UMLS:CN207113 (MONDO:equivalentTo)
  • DOID:0050460 (MONDO:equivalentTo)
  • UMLS:C0796202 (MONDO:equivalentTo)
  • ICD10CM:Q93.3 (Orphanet:280/ntbt)
  • UMLS:C1956097 (Orphanet:280/e)
  • OMIM:194190 (Orphanet:280/e)
  • DECIPHER:1 (MONDO:equivalentTo)
  • GARD:0007896 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_malformation_syndrome

abbreviation
WHS [ OMIM:194190 MONDO:Lexical ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5588, https://github.com/monarch-initiative/mondo/issues/4521

closeMatch

http://identifiers.org/meddra/10050361

definition

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.

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, http://purl.obolibrary.org/obo/MONDO_0000508

has exact synonym

Pitt syndrome, distal monosomy 4p, telomeric deletion 4p, chromosome 4p16.3 deletion syndrome, 4p deletion syndrome, Wittwer syndrome, distal deletion 4p, Pitt-Rogers-Danks syndrome, Wolf-Hirschhorn syndrome, Isolated cases, Wolf-Hirschhorn syndrome, 4p- syndrome

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, 4p syndrome

id

MONDO:0008684

seeAlso

https://rarediseases.info.nih.gov/diseases/7896/wolf-hirschhorn-syndrome