Experimental Factor Ontology - inherited ichthyosis - Classes | NCBO BioPortal

Experimental Factor Ontology

Last uploaded: June 18, 2024

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Preferred Name	inherited ichthyosis
Synonyms	hereditary ichthyosis (disease) congenital ichthyosis of skin genetic ichthyosis inherited genetic ichthyosis ichthyosis congenita congenital ichthyosis fish scale disease fish skin
Definitions	Mendelian disorders of cornification affecting all or most of integument characterized by hyperkeratosis and/or scaling, caused by an inherited modification of the individual's genome.
ID	http://purl.obolibrary.org/obo/MONDO_0015947
closeMatch	http://identifiers.org/meddra/10021202
database_cross_reference	ICD10CM:Q80 NANDO:1200609 MedDRA:10021202 Orphanet:183435 NANDO:2100283 SCTID:13059002 GARD:20261 ICD9:757.1
definition	Mendelian disorders of cornification affecting all or most of integument characterized by hyperkeratosis and/or scaling, caused by an inherited modification of the individual's genome.
exactMatch	http://purl.bioontology.org/ontology/ICD10CM/Q80 http://identifiers.org/snomedct/13059002 http://purl.obolibrary.org/obo/Orphanet_183435
has_exact_synonym	hereditary ichthyosis (disease) congenital ichthyosis of skin genetic ichthyosis inherited genetic ichthyosis
has_related_synonym	ichthyosis congenita congenital ichthyosis fish scale disease fish skin
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/4293 https://github.com/monarch-initiative/mondo/issues/2114
id	MONDO:0015947
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#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping
label	inherited ichthyosis
notation	MONDO:0015947
prefLabel	inherited ichthyosis
subClassOf	http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/MONDO_0019269

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Delete	Mapping To	Ontology	Source
	http://purl.obolibrary.org/obo/MONDO_0015947	MONDO	SAME_URI
	http://purl.obolibrary.org/obo/MONDO_0015947	DOVES	SAME_URI
	http://purl.obolibrary.org/obo/MONDO_0015947	KTAO	SAME_URI
	http://purl.obolibrary.org/obo/MONDO_0015947	MONDO	LOOM
	http://purl.obolibrary.org/obo/MONDO_0015947	DOVES	LOOM
	http://purl.obolibrary.org/obo/MONDO_0015947	KTAO	LOOM
	http://www.orpha.net/ORDO/Orphanet_183435	ORDO	LOOM
	http://www.limics.org/hrdo/rdfns#pat_id_18232	HRDO	LOOM