JSON

TELO2-related intellectual disability-neurodevelopmental disorder

Go to external page http://purl.obolibrary.org/obo/MONDO_0014848

Synonyms: you-Hoover-Fong syndrome TELO2-related intellectual disability-neurodevelopmental disorder

This is just here as a test because I lose it

Term information

database cross reference
  • EFO:0009061 (MONDO:equivalentTo)
  • Orphanet:488642 (MONDO:equivalentTo)
  • UMLS:C4310778 (MONDO:ncbi_mim2gene_medline)
  • OMIM:616954 (Orphanet:488642)
  • GARD:17898 (Orphanet:488642)
Subsets

gard_rare, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare, clingen

IAO 0000233

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

exactMatch

https://omim.org/entry/616954

http://www.orpha.net/ORDO/Orphanet_488642

http://linkedlifedata.com/resource/umls/id/C4310778

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0005328

http://purl.obolibrary.org/obo/MONDO_0015368

http://purl.obolibrary.org/obo/MONDO_0015620

http://purl.obolibrary.org/obo/MONDO_0005027

http://purl.obolibrary.org/obo/MONDO_0020215

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

http://purl.obolibrary.org/obo/MONDO_0020240

id

MONDO:0014848

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0014848