loading...| Preferred Name |
Lamellar ichthyosis |
|
| Synonyms |
LI |
|
| Definitions |
A rare autosomal recessive congenital ichthyosis characterized by the presence of large scales all over the body without significant erythroderma. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_313 |
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| 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 |
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| has_inheritance |
Autosomal recessive Autosomal dominant |
|
| hasDbXref |
OMIM:617571 OMIM:242300 ICD-10:Q80.2 ICD-11:EC20.02 OMIM:601277 OMIM:613943 OMIM:146750 MeSH:D017490 OMIM:612281 OMIM:604777 OMIM:606545 MedDRA:10023686 |
|
| label |
Lamellar ichthyosis |
|
| notation |
ORPHA:313 |
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| part_of | ||
| prefixIRI |
ORDO:Orphanet_313 |
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| prefLabel |
Lamellar ichthyosis |
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| present_in |
Spain AND has_point_prevalence_average_value : 0.35 AND has_point_prevalence_range : 1-9 / 1 000 000 Europe 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 |
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| treeView | ||
| subClassOf |