About: syndromic X-linked intellectual disability Snyder type

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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://b50939428
label	syndromic X-linked intellectual disability Snyder type
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0060802
database_cross_reference	GARD:5615 ICD10CM:Q87.8 OMIM:309583 ORDO:3063
has_exact_synonym	SRS (en) Snyder-Robinson mental retardation syndrome (en) Snyder-Robinson syndrome (en) mental retardation, X-linked, Snyder-Robinson type (en) spermine synthase deficiency (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A syndromic X-linked intellectual disability characterized by mild to profound intellectual disability, facial asymmetry, marfanoid habitus, asthenic habitus, unsteady gait, thickened lower lip, nasal dysarthic speech, narrow or cleft palate, osteoporosis, kyphoscoliosis, long great toes, short stature, pectus carinatum, and myopia that has_material_basis_in mutation in the SMS gene on chromosome Xp22.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50939429

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