Not logged in : Login
(Sponging disallowed)

About: chromosome 2q37 deletion syndrome     Goto   Sponge   NotDistinct   Permalink

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

AttributesValues
type
subClassOf
label
  • chromosome 2q37 deletion syndrome
described by
id
  • DOID:0111704
database_cross_reference
  • MESH:C538317
  • NCI:C129021
  • OMIM:600430
  • ORDO:1001
  • SNOMEDCT_US_2021_09_01:702357000
  • UMLS_CUI:C2931817
has_exact_synonym
  • 2q37 microdeletion syndrome
  • Albright hereditary osteodystrophy type 3
  • Albright hereditary osteodystrophy-like syndrome
  • Albright's hereditary osteodystrophy-like syndrome
  • BDMR
  • Brachydactyly-intellectual disability syndrome
  • Del(2)(q37)
  • deletion 2q37
  • monosomy 2q37qter
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A chromosomal deletion syndrome characterized by variable features, likely resulting from different sized deletions, including; brachydactyly type E, short stature, mild to moderate intellectual disability, behavioral abnormalities, and dysmorphic facial features that has_material_basis_in heterozygosity for a contiguous deletion of several genes on chromosome 2q37.2.
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, 56 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software