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About:
congenital malabsorptive diarrhea 4
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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
congenital diarrhea
nodeID://b50939373
nodeID://b50939374
nodeID://b50939375
label
congenital malabsorptive diarrhea 4
described by
https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id
DOID:0060779
database_cross_reference
ICD10CM:P78.3
OMIM:610370
ORDO:83620
has_exact_synonym
congenital malabsorptive diarrhea due to paucity of enteroendocrine cells
(en)
congenital malabsorptive diarrhoea 4
(en)
enteric anendocrinosis
(en)
congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells
(en)
has_obo_namespace
disease_ontology
http://purl.obolib...g/obo/IAO_0000115
A congenital diarrhea characterized by chronic unremitting malabsorptive diarrhea and a profound dysgenesis of the enteroendocrine cells that has_material_basis_in mutation in the gene encoding neurogenin-3 (NEUROG3) on chromosome 10q21.3.
is
topic
of
Human Disease Ontology
is
annotatedSource
of
nodeID://b50939376
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