Experimental Factor Ontology

Last uploaded: November 18, 2024
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Preferred Name

lamellar ichthyosis
Synonyms

congenital lamellar ichthyosis

classic lamellar ichthyosis

LI
Definitions

A keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma.
ID

http://purl.obolibrary.org/obo/MONDO_0017778
closeMatch

http://identifiers.org/meddra/10023686
database_cross_reference

MEDGEN:1852191

Orphanet:313

icd11.foundation:600146417

UMLS:C5848247

MedDRA:10023686

NANDO:1200617

NCIT:C84805

GARD:10803

NORD:1289
definition

A keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma.
exactMatch

http://purl.obolibrary.org/obo/Orphanet_313

http://linkedlifedata.com/resource/umls/id/C5848247

http://purl.obolibrary.org/obo/NCIT_C84805

http://identifiers.org/medgen/1852191

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/600146417
has_exact_synonym

congenital lamellar ichthyosis

classic lamellar ichthyosis

LI
IAO_0000233

https://github.com/monarch-initiative/mondo/issues/6877

https://github.com/monarch-initiative/mondo/issues/2114
id

MONDO:0017778
in_subset

http://purl.obolibrary.org/obo/mondo/mondo-base#rare

http://purl.obolibrary.org/obo/mondo/mondo-base#otar

http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder
label

lamellar ichthyosis
notation

MONDO:0017778
preferred label

lamellar ichthyosis
prefLabel

lamellar ichthyosis
subClassOf

http://www.ebi.ac.uk/efo/EFO_0003966

http://purl.obolibrary.org/obo/MONDO_0100118
excluded_subClassOf

http://purl.obolibrary.org/obo/MONDO_0019269
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