Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple cafC)-au-lait macules with or without axillary or inguinal freckling. [ Orphanet:137605 ]
Synonyms: NF1-like syndrome Legius syndrome neurofibromatosis 1-like syndrome
Term information
- ICD9:709.09 (MONDO:relatedTo)
- UMLS:C1969623 (Orphanet:137605/e)
- SCTID:703541007 (MONDO:equivalentTo)
- MESH:C548032 (Orphanet:137605/e)
- Orphanet:137605 (OMIM:611431)
- OMIM:611431 (Orphanet:137605/e)
- NCIT:C176941 (MONDO:equivalentTo)
- GARD:10714 (Orphanet:137605)
gard_rare, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare, clingen
http://linkedlifedata.com/resource/umls/id/C1969623
http://purl.obolibrary.org/obo/NCIT_C176941
http://www.orpha.net/ORDO/Orphanet_137605
http://identifiers.org/mesh/C548032
http://identifiers.org/snomedct/703541007
https://omim.org/entry/611431
https://rarediseases.info.nih.gov/diseases/10714/legius-syndrome
https://search.clinicalgenome.org/kb/conditions/MONDO:0012669