About: Beckwith-Wiedemann Syndrome     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linked.opendata.cz associated with source document(s)

AttributesValues
rdf:type
rdfs:label
  • Beckwith-Wiedemann Syndrome
equivalentClass
Has_NICHD_Parent
Concept_In_Subset
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Beckwith-Wiedemann Syndrome
UMLS_CUI
  • C0004903
Contributing_Source
  • NICHD
ALT_DEFINITION
  • A rare, overgrowth disorder in which babies are large at birth and may develop low blood sugar. Other common symptoms are a large tongue, large internal organs, and defects of the abdominal wall near the navel. Beckwith-Wiedemann syndrome increases the risk of developing certain cancers, especially Wilms tumor.NCI-GLOSS
Legacy_Concept_Name
  • Beckwith-Wiedemann_Syndrome
FULL_SYN
  • Beckwith-Wiedemann SyndromePTNCI
  • Beckwith-Wiedemann syndromePTNCI-GLOSSCDR0000304689
  • Beckwith-Wiedemann SyndromePTNICHD
DEFINITION
  • A genetic syndrome caused by abnormalities in chromosome 11. It is characterized by large birth weight, macroglossia, umbilical hernia, ear abnormalities, and hypoglycemia. Patients with this syndrome have an increased risk of developing embryonal tumors (gonadoblastoma, hepatoblastoma, Wilms tumor, Rhabdomyosarcoma) and adrenal cortex carcinomas.NCI
code
  • C34415
is someValuesFrom of
Faceted Search & Find service v1.16.118 as of Jun 21 2024


Alternative Linked Data Documents: 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 07.20.3240 as of Jun 21 2024, on Linux (x86_64-pc-linux-gnu), Single-Server Edition (126 GB total memory, 48 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software