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About:
syndromic microphthalmia 10
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An Entity of Type :
owl:Class
, within Data Space :
linkeddata.uriburner.com:28898
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Attributes
Values
type
Class
subClassOf
syndromic microphthalmia
label
syndromic microphthalmia 10
described by
https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id
DOID:0111812
database_cross_reference
GARD:9292
OMIM:611222
ORDO:77299
has_exact_synonym
MCOPS10
MOBA
microphthalmia-brain atrophy syndrome
has_obo_namespace
disease_ontology
http://purl.obolib...g/obo/IAO_0000115
A syndromic microphthalmia characterized by congenital microphthalmia and blindness, microcephaly, progressive spasticity, seizures, progressive atrophy of the brain and profound intellectual disability.
is
topic
of
Human Disease Ontology
is
annotatedSource
of
nodeID://b50945520
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