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About:
lethal congenital contracture syndrome
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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
autosomal recessive disease
spinal disease
physical disorder
syndrome
nodeID://b50939049
nodeID://b50939050
nodeID://b50939051
label
lethal congenital contracture syndrome
(en)
described by
https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id
DOID:0060558
database_cross_reference
GARD:12643
ICD10CM:Q68.8
OMIM:PS253310
ORDO:294965
has_obo_namespace
disease_ontology
http://purl.obolib...g/obo/IAO_0000115
A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth.
is
subClassOf
of
lethal congenital contracture syndrome 1
lethal congenital contracture syndrome 2
lethal congenital contracture syndrome 3
lethal congenital contracture syndrome 4
is
topic
of
Human Disease Ontology
is
annotatedSource
of
nodeID://b50939052
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