Mondo Disease Ontology

Last uploaded: November 25, 2024
Preferred Name

lamellar ichthyosis
Synonyms

classic lamellar ichthyosis

congenital 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

database_cross_reference

icd11.foundation:600146417

NANDO:1200617

MEDGEN:1852191

UMLS:C5848247

MedDRA:10023686

GARD:10803

Orphanet:313

NCIT:C84805

NORD:1289

definition

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

has_exact_synonym

classic lamellar ichthyosis

congenital 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-simple#otar

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

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

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

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

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

label

lamellar ichthyosis

notation

MONDO:0017778

prefLabel

lamellar ichthyosis

skos_closeMatch

http://identifiers.org/meddra/10023686

skos_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

treeView

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

http://purl.obolibrary.org/obo/MONDO_0005328

excluded subClassOf

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

subClassOf

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

http://purl.obolibrary.org/obo/MONDO_0005328

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