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laryngo-onycho-cutaneous syndrome

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description 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.
Uniprot Description Autosomal recessive epithelial disorder confined to the Punjabi Muslim population. The condition is characterized by cutaneous erosions, nail dystrophy and exuberant vascular granulation tissue in certain epithelia, especially conjunctiva and larynx.
Mondo Term and Equivalent IDs
MONDO:0009513:  laryngo-onycho-cutaneous syndrome
GARD:0000368: 
MESH:C537032: 
Orphanet:2407: 
SCTID:722675000: 
UMLS:C1328355: