Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects. [ Orphanet:974 ]
Synonyms: limb, scalp and skull defects Adams Oliver syndrome Adams-Oliver syndrome AOS congenital scalp defects with distal limb anomalies congenital scalp defects with distal limb reduction anomalies
Term information
- Orphanet:974 (OMIM:100300)
- DOID:0060227 (MONDO:equivalentTo)
- OMIMPS:100300 (MONDO:equivalentTo)
- MESH:C538225 (Orphanet:974/e)
- GARD:5739 (Orphanet:974)
- ICD9:759.89 (MONDO:relatedTo)
- UMLS:C0265268 (Orphanet:974/e)
- SCTID:34748004 (MONDO:equivalentTo)
- NORD:731 (MONDO:NORD)
gard_rare, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare, clingen
https://github.com/monarch-initiative/mondo/issues/6877
https://github.com/monarch-initiative/mondo/issues/5682
http://identifiers.org/snomedct/34748004
http://linkedlifedata.com/resource/umls/id/C0265268
http://www.orpha.net/ORDO/Orphanet_974
http://purl.obolibrary.org/obo/DOID_0060227
http://identifiers.org/mesh/C538225
https://omim.org/phenotypicSeries/PS100300
https://rarediseases.info.nih.gov/diseases/5739/adams-oliver-syndrome
https://search.clinicalgenome.org/kb/conditions/MONDO:0007034