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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. [ Orphanet:280 ]

Synonyms: 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 4p- syndrome Wolf-Hirschhorn syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:D054877 (Orphanet:280/e)
  • OMIM:194190 (Orphanet:280/e)
  • Orphanet:280 (OMIM:194190)
  • DOID:0050460 (MONDO:equivalentTo)
  • NANDO:2200962 (https://orcid.org/0000-0003-0011-764X)
  • NCIT:C35528 (MONDO:equivalentTo)
  • ICD10CM:Q93.3 (Orphanet:280/ntbt)
  • MedDRA:10050361 (Orphanet:280/e)
  • GARD:7896 (MONDO:GARD)
  • UMLS:C1956097 (MONDO:equivalentTo)
  • MEDGEN:408255 (MONDO:equivalentTo)
  • SCTID:718226002 (MONDO:equivalentTo)
  • NORD:1859 (MONDO:NORD)
  • DECIPHER:1 (MONDO:equivalentTo)
  • NANDO:1200683 (https://orcid.org/0000-0003-0011-764X)
Subsets

gard_rare, ordo_disorder, otar, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare

ClinGen label
Wolf-Hirschhorn syndrome [ https://omim.org/entry/194190 MONDO:Lexical ]

closeMatch

http://identifiers.org/meddra/10050361

exactMatch

http://identifiers.org/medgen/408255

http://identifiers.org/mesh/D054877

http://purl.obolibrary.org/obo/NCIT_C35528

http://linkedlifedata.com/resource/umls/id/C1956097

http://identifiers.org/snomedct/718226002

https://omim.org/entry/194190

http://www.orpha.net/ORDO/Orphanet_280

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

excluded from qc check

http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

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

term tracker item

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

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