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About:
amelogenesis imperfecta type 1C
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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://b50942425
label
amelogenesis imperfecta type 1C
described by
https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id
DOID:0110056
database_cross_reference
ICD10CM:K00.5
OMIM:204650
has_exact_synonym
autosomal recessive amelogenesis imperfecta local hypoplastic type
(en)
AI1C
(en)
amelogenesis imperfecta type IC
(en)
autosomal recessive amelogenesis imperfecta hypoplastic with or without openbite malocclusion
(en)
has_obo_namespace
disease_ontology
http://purl.obolib...g/obo/IAO_0000115
An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the enamelin gene (ENAM).
is
topic
of
Human Disease Ontology
is
annotatedSource
of
nodeID://b50942426
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