Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
Preferred Name

Autosomal recessive congenital ichthyosis

Synonyms

ARCI

ID

http://www.orpha.net/ORDO/Orphanet_281097

alternative_term

ARCI

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=281097

has_age_of_onset

Infancy

Neonatal

has_inheritance

Autosomal recessive

hasDbXref

ICD-11:EC20.02

UMLS:C1274215

label

Autosomal recessive congenital ichthyosis

notation

ORPHA:281097

Clinical group

prefixIRI

ORDO:Orphanet_281097

prefLabel

Autosomal recessive congenital ichthyosis

present_in

United States AND has_annual_incidence_average_value : 0.5 AND has_annual_incidence_range : 1-9 / 1 000 000

Spain AND has_point_prevalence_average_value : 0.77 AND has_point_prevalence_range : 1-9 / 1 000 000

Norway AND has_annual_incidence_average_value : 1.1 AND has_annual_incidence_range : 1-9 / 100 000

Europe AND has_point_prevalence_average_value : 0.5 AND has_point_prevalence_range : 1-9 / 1 000 000

subClassOf

http://www.orpha.net/ORDO/Orphanet_557492

http://www.orpha.net/ORDO/Orphanet_98571

http://www.orpha.net/ORDO/Orphanet_281082

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