loading...| Preferred Name |
Lamellar ichthyosis |
| ID |
http://www.orpha.net/ORDO/Orphanet_313 |
| alternative_term |
LI |
| definition |
A rare autosomal recessive congenital ichthyosis characterized by the presence of large scales all over the body without significant erythroderma. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313 |
| has_age_of_onset |
Neonatal |
| has_inheritance |
Autosomal recessive Autosomal dominant |
| hasDbXref |
OMIM:617571 OMIM:146750 OMIM:601277 OMIM:606545 OMIM:242300 ICD-11:EC20.02 ICD-10:Q80.2 MedDRA:10023686 OMIM:612281 MeSH:D017490 OMIM:613943 OMIM:604777 |
| label |
Lamellar ichthyosis |
| notation |
ORPHA:313 |
| part_of | |
| prefixIRI |
ORDO:Orphanet_313 |
| prefLabel |
Lamellar ichthyosis |
| present_in |
Spain AND has_point_prevalence_average_value : 0.35 AND has_point_prevalence_range : 1-9 / 1 000 000 Norway AND has_point_prevalence_average_value : 1.1 AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 1 000 000 |
| treeView | |
| subClassOf |