A keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma. [ Orphanet:313 ]
Synonyms: congenital lamellar ichthyosis LI classic lamellar ichthyosis
Term information
- NANDO:1200617 (https://orcid.org/0000-0003-0011-764X)
- MedDRA:10023686 (Orphanet:313/e)
- NORD:1289 (MONDO:NORD)
- Orphanet:313 (MONDO:equivalentTo)
- GARD:10803 (MONDO:GARD)
- NCIT:C84805 (MONDO:equivalentTo)
gard_rare, ordo_disorder, otar, rare, nord_rare, orphanet_rare
https://github.com/monarch-initiative/mondo/issues/2114
https://github.com/monarch-initiative/mondo/issues/6877