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laryngo-onycho-cutaneous syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0009513

LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites. [ Orphanet:2407 ]

Synonyms: laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome logic syndrome laryngo-onycho-cutaneous syndrome Shabbir syndrome LOC syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:C537032 (MONDO:equivalentTo)
  • SCTID:722675000 (MONDO:equivalentTo)
  • Orphanet:2407 (OMIM:245660)
  • GARD:368 (Orphanet:2407)
  • OMIM:245660 (Orphanet:2407/e)
  • UMLS:C1328355 (Orphanet:2407)
Subsets

gard_rare, ordo_disease, otar, rare, nord_rare, orphanet_rare

exactMatch

https://omim.org/entry/245660

http://www.orpha.net/ORDO/Orphanet_2407

http://identifiers.org/mesh/C537032

http://identifiers.org/snomedct/722675000

http://linkedlifedata.com/resource/umls/id/C1328355

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0015221

has related synonym

LOCS

LARYNGOONYCHOCUTANEOUS syndrome

id

MONDO:0009513

term tracker item

https://github.com/monarch-initiative/mondo/issues/6878