severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome
Go to external page http://purl.obolibrary.org/obo/MONDO_0018572
This is just here as a test because I lose it
Term information
database
cross reference
- GARD:21817 (MONDO:GARD)
- UMLS:C5681179 (MONDO:equivalentTo)
- Orphanet:436141 (MONDO:equivalentTo)
- MEDGEN:1808836 (MONDO:equivalentTo)
Subsets
gard_rare, ordo_disorder, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare
IAO 0000233
https://github.com/monarch-initiative/mondo/issues/6744
https://github.com/monarch-initiative/mondo/issues/5588
exactMatch
http://linkedlifedata.com/resource/umls/id/C5681179
http://www.orpha.net/ORDO/Orphanet_436141
http://identifiers.org/medgen/1808836