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About:
chromosome 18p deletion syndrome
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An Entity of Type :
owl:Class
, within Data Space :
demo.openlinksw.com
associated with source
document(s)
New Facet based on Instances of this Class
Attributes
Values
type
Class
subClassOf
autosomal dominant disease
chromosomal deletion syndrome
nodeID://b50938788
label
chromosome 18p deletion syndrome
described by
https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id
DOID:0060406
created_by
elvira
creation_date
2015-09-28T17:01:47Z
database_cross_reference
GARD:8631
MESH:C538309
NCI:C84521
OMIM:146390
ORDO:1598
SNOMEDCT_US_2021_09_01:205632001
UMLS_CUI:C0432442
has_exact_synonym
18p- syndrome
(en)
De Grouchy syndrome
(en)
monosomy 18p
(en)
has_obo_namespace
disease_ontology
in_subset
DO_rare_slim
NCIthesaurus
http://purl.obolib...g/obo/IAO_0000115
A chromosomal deletion syndrome that has_material_basis_in partial or complete deletion of the short arm of chromosome 18.
is
topic
of
Human Disease Ontology
is
annotatedSource
of
nodeID://b50938789
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