Cell Culture Ontology

Last uploaded: July 23, 2014

Id	http://purl.obolibrary.org/obo/MONDO_0017305 http://purl.obolibrary.org/obo/MONDO_0017305
Preferred Name	syndromic oculocutaneous albinism
Definitions	A oculocutaneous albinism that is part of a larger syndrome.
Synonyms	syndrome associated with oculocutaneous albinism syndromic oculocutaneous albinism
Type	http://www.w3.org/2002/07/owl#Class

definition	A oculocutaneous albinism that is part of a larger syndrome.
preferred label	syndromic oculocutaneous albinism
label	syndromic oculocutaneous albinism
prefLabel	syndromic oculocutaneous albinism
database_cross_reference	ICD10CM:E70.3 MEDGEN:1843078 UMLS:C5681016 Orphanet:284811 GARD:21125
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/6744
notation	MONDO:0017305
in_subset	http://purl.obolibrary.org/obo/mondo/mondo-base#rare 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
id	MONDO:0017305
skos_exactMatch	http://linkedlifedata.com/resource/umls/id/C5681016 http://purl.obolibrary.org/obo/Orphanet_284811 http://identifiers.org/medgen/1843078
subClassOf	http://purl.obolibrary.org/obo/MONDO_0100118 http://purl.obolibrary.org/obo/MONDO_0018134 http://purl.obolibrary.org/obo/MONDO_0019290 http://purl.obolibrary.org/obo/MONDO_0002254
type	http://www.w3.org/2002/07/owl#Class
has_exact_synonym	syndrome associated with oculocutaneous albinism syndromic oculocutaneous albinism

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