About: syndromic X-linked intellectual disability 5

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Attributes	Values
type	Class
subClassOf	syndromic X-linked intellectual disability X-linked recessive disease nodeID://b50939424
label	syndromic X-linked intellectual disability 5
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0060800
database_cross_reference	MESH:C535773 NCI:C124839 OMIM:304340 ORDO:1568 ORDO:85335 SNOMEDCT_US_2021_09_01:719139003 UMLS_CUI:C0796254
has_exact_synonym	X-linked metal retardation with Dandy-Walker malformation, basal ganglia disease, and seizures (en) Fried syndrome (en) MRX59 (en) MRXS21 (en) Mental retardation, X-linked syndromic 5 (en) Pettigrew syndrome (en) X-linked mental retardation 59 (en) syndromic X-linked mental retardation 21 (en) syndromic X-linked mental retardation Fried type (en) X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome (en)
has_obo_namespace	disease_ontology
in_subset	NCIthesaurus
http://purl.obolib...g/obo/IAO_0000115	A syndromic X-linked intellectual disability characterized by intellectual disability and variable features including; choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the brain that has_material_basis_in mutation in the AP1S2 gene on chromosome Xp22.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50939425

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