Not logged in : Login
(Sponging disallowed)

About: syndromic X-linked intellectual disability Chudley-Schwartz type     Goto   Sponge   NotDistinct   Permalink

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

AttributesValues
type
subClassOf
label
  • syndromic X-linked intellectual disability Chudley-Schwartz type
described by
id
  • DOID:0060819
database_cross_reference
  • OMIM:300861
has_exact_synonym
  • MRXSCS (en)
  • mental retardation, X-linked, syndromic, Chudley-Schwartz type (en)
  • X-linked mental retardation with seizures, hypogammaglobinemia, and gait disturbance (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A syndromic X-linked intellectual disability characterized by moderate intellectual disability, seizures, dysmorphic facial features and in some older patients slowly progressive unsteady gait and progressive weakness that has_material_basis_in variation in the chromosomal region Xq21.33-q23.
is topic of
is annotatedSource of
Faceted Search & Find service v1.17_git144 as of Jul 26 2024


Alternative Linked Data Documents: iSPARQL | ODE     Content Formats:   [cxml] [csv]     RDF   [text] [turtle] [ld+json] [rdf+json] [rdf+xml]     ODATA   [atom+xml] [odata+json]     Microdata   [microdata+json] [html]    About   
This material is Open Knowledge   W3C Semantic Web Technology [RDF Data] Valid XHTML + RDFa
OpenLink Virtuoso version 08.03.3331 as of Aug 25 2024, on Linux (x86_64-ubuntu_noble-linux-glibc2.38-64), Single-Server Edition (378 GB total memory, 62 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software