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Robinow syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0019978

Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia. [ Orphanet:97360 ]

Synonyms: acral dysostosis with facial and genital abnormalities mesomelic dwarfism-small genitalia syndrome foetal face syndrome Robinow-Silverman-Smith syndrome Robinow dwarfism fetal face syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:312 (MONDO:GARD)
  • DOID:0060254 (MONDO:equivalentTo)
  • MEDGEN:78535 (MONDO:equivalentTo)
  • Orphanet:97360 (MONDO:equivalentTo)
  • NCIT:C85048 (MONDO:equivalentTo)
  • UMLS:C0265205 (MONDO:equivalentTo)
  • OMIMPS:268310 (https://orcid.org/0000-0002-6601-2165)
  • NORD:1673 (MONDO:NORD)
Subsets

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

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/6877

https://github.com/monarch-initiative/mondo/issues/6751

exactMatch

http://www.orpha.net/ORDO/Orphanet_97360

http://linkedlifedata.com/resource/umls/id/C0265205

http://identifiers.org/medgen/78535

https://omim.org/phenotypicSeries/PS268310

http://purl.obolibrary.org/obo/DOID_0060254

http://purl.obolibrary.org/obo/NCIT_C85048

has related synonym

costovertebral segmentation defect with mesomelia (formerly)

Covesdem syndrome (formerly)

id

MONDO:0019978