About: Christianson 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 dominant disease nodeID://b50939458
label	Christianson syndrome
has exact match	MESH:C537450
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
has broader match	MESH:C567484
id	DOID:0060825
database_cross_reference	GARD:10572 MESH:C537450 OMIM:300243 ORDO:85278 UMLS_CUI:C1846130
has_exact_synonym	MRXSCH (en) X-linked Angelman-like syndrome (en) X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome (en) mental retardation, X-linked syndromic, Christianson type (en) X-linked intellectual disability, South African type (en) mental retardation, microcephaly, epilepsy, and ataxia syndrome (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A syndromic X-linked intellectual disability characterized by severe developmental delay, intellectual disability, microcephaly, impaired speech, ataxia, hypotonia and early-onset seizures that has_material_basis_in mutation in the SLC9A6 gene on chromosome Xq26.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50939459

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