JSON

Kleefstra syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0012455

A genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features. [ Orphanet:261494 ]

Synonyms: 9q-syndrome Kleefstra syndrome 9Q- syndrome chromosome 9q deletion syndrome 9q34 deletion syndrome 9q34.3 microdeletion syndrome 9Q subtelomeric deletion syndrome chromosome 9Q34.3 deletion syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • OMIMPS:610253 (https://orcid.org/0000-0002-6601-2165)
  • UMLS:C4551771 (MONDO:equivalentTo)
  • DOID:0080597 (MONDO:equivalentTo)
  • NANDO:1200959 (https://orcid.org/0000-0003-0011-764X)
  • GARD:8672 (MONDO:GARD)
  • MEDGEN:1684615 (MONDO:equivalentTo)
  • Orphanet:261494 (OMIM:610253)
  • NORD:184097 (MONDO:NORD)
Subsets

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

IAO 0000233

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

exactMatch

http://purl.obolibrary.org/obo/DOID_0080597

http://linkedlifedata.com/resource/umls/id/C4551771

http://www.orpha.net/ORDO/Orphanet_261494

https://omim.org/phenotypicSeries/PS610253

http://identifiers.org/medgen/1684615

excluded subClassOf

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

id

MONDO:0012455

seeAlso

https://rarediseases.info.nih.gov/diseases/8672/kleefstra-syndrome