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About:
amelogenesis imperfecta hypomaturation type 2A4
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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
amelogenesis imperfecta
nodeID://b50942436
label
amelogenesis imperfecta hypomaturation type 2A4
described by
https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id
DOID:0110062
database_cross_reference
ICD10CM:K00.5
OMIM:614832
has_exact_synonym
AI2A4
(en)
amelogenesis imperfecta hypomaturation type IIA4
(en)
amelogenesis imperfecta type IIA4
(en)
has_obo_namespace
disease_ontology
http://purl.obolib...g/obo/IAO_0000115
An amelogenesis imperfecta caused by homozygous mutation in the C4ORF26 gene on chromosome 4q21.
is
topic
of
Human Disease Ontology
is
annotatedSource
of
nodeID://b50942437
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