About: Paganini-Miozzo syndrome

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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Attributes	Values
type	Class
subClassOf	syndromic X-linked intellectual disability X-linked recessive disease nodeID://b50945583
label	Paganini-Miozzo syndrome
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0111843
database_cross_reference	OMIM:301025
has_exact_synonym	MRXSPM
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, high myopia, and mild dysmorphic facial features that has_material_basis_in hemizygous mutation in HS6ST2 on chromosome Xq26.2.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50945584

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