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8p inverted duplication/deletion syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0019876

8p inverted duplication/deletion [invdupdel(8p)] syndrome is a rare chromosomal anomaly characterized clinically by mild to severe intellectual deficit, severe developmental delay (psychomotor and speech development), hypotonia with tendency to develop progressive hypertonia and severe orthopedic problems over time, minor facial anomalies and agenesis of the corpus callosum. [ Orphanet:96092 ]

Synonyms: Invdupdel(8p) inverted 8p duplication/deletion syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:96092 (MONDO:equivalentTo)
  • GARD:19309 (MONDO:GARD)
  • SCTID:718188007 (MONDO:equivalentTo)
  • UMLS:C4273676 (MONDO:equivalentTo)
  • MEDGEN:906101 (MONDO:equivalentTo)
Subsets

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

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4272

exactMatch

http://identifiers.org/snomedct/718188007

http://identifiers.org/medgen/906101

http://www.orpha.net/ORDO/Orphanet_96092

http://linkedlifedata.com/resource/umls/id/C4273676

id

MONDO:0019876

Term relations

Subclass of: