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About:
asphyxiating thoracic dystrophy 5
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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
asphyxiating thoracic dystrophy
autosomal recessive disease
nodeID://b50942493
label
asphyxiating thoracic dystrophy 5
(en)
described by
https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id
DOID:0110089
database_cross_reference
ICD10CM:Q77.2
OMIM:614376
has_exact_synonym
ATD5
(en)
SRTD5
(en)
short-rib thoracic dysplasia 5 with or without polydactyly
(en)
has_obo_namespace
disease_ontology
http://purl.obolib...g/obo/IAO_0000115
An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the WDR19 gene on chromosome 4p14.
is
topic
of
Human Disease Ontology
is
annotatedSource
of
nodeID://b50942494
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