Digital medicine Outcomes Value Set (DOVeS) Ontology

Last uploaded: December 13, 2023

Preferred Name	syndromic oculocutaneous albinism
Synonyms	syndromic oculocutaneous albinism syndrome associated with oculocutaneous albinism
Definitions	A oculocutaneous albinism that is part of a larger syndrome.
ID	http://purl.obolibrary.org/obo/MONDO_0017305
has_exact_synonym	syndromic oculocutaneous albinism syndrome associated with oculocutaneous albinism
label	syndromic oculocutaneous albinism
prefixIRI	MONDO:0017305
prefLabel	syndromic oculocutaneous albinism
textual definition	A oculocutaneous albinism that is part of a larger syndrome.
subClassOf	http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/MONDO_0018134 http://purl.obolibrary.org/obo/MONDO_0020275 http://purl.obolibrary.org/obo/MONDO_0019290

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0017305	EFO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0017305	MONDO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0017305	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0017305	MONDO	LOOM
http://www.orpha.net/ORDO/Orphanet_284811	ORDO	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_20624	HRDO	LOOM