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About:
dermatopathia pigmentosa reticularis
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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 dominant disease
ectodermal dysplasia
nodeID://b50944623
label
dermatopathia pigmentosa reticularis
described by
https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id
DOID:0111342
database_cross_reference
GARD:8550
MESH:C535374
OMIM:125595
ORDO:86920
SNOMEDCT_US_2021_09_01:239088003
UMLS_CUI:C0406778
has_exact_synonym
DPR
(en)
has_obo_namespace
disease_ontology
http://purl.obolib...g/obo/IAO_0000115
An ectodermal dysplasia characterized by reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy that has_material_basis_in heterozygous mutation in KRT14 on chromosome 17q21.2.
is
topic
of
Human Disease Ontology
is
annotatedSource
of
nodeID://b50944624
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