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About:
geleophysic dysplasia
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An Entity of Type :
owl:Class
, within Data Space :
linkeddata.uriburner.com:28898
associated with source
document(s)
New Facet based on Instances of this Class
Attributes
Values
type
Class
subClassOf
bone development disease
label
geleophysic dysplasia
described by
https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id
DOID:0111724
database_cross_reference
GARD:2449
MEDDRA:10063361
OMIM:PS231050
ORDO:2623
SNOMEDCT_US_2021_09_01:28557005
UMLS_CUI:C3489726
has_exact_synonym
GPHYSD
geleophysic dwarfism
has_obo_namespace
disease_ontology
http://purl.obolib...g/obo/IAO_0000115
A bone development disease characterized by short-limb dwarfism, brachydactyly, cardiac valvular disease, characteristic facial appearance, skin thickening, and laryngotracheal stenosis.
is
subClassOf
of
geleophysic dysplasia 1
geleophysic dysplasia 2
geleophysic dysplasia 3
is
topic
of
Human Disease Ontology
is
annotatedSource
of
nodeID://b50945354
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