About: Inherited Bone Marrow Failure Syndrome     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linked.opendata.cz:8890 associated with source document(s)

AttributesValues
rdf:type
rdfs:label
  • Inherited Bone Marrow Failure Syndrome
rdfs:subClassOf
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Inherited Bone Marrow Failure Syndrome
UMLS_CUI
  • C2986691
ALT_DEFINITION
  • A rare disorder in which a person's bone marrow is unable to make enough blood cells and there is a family history of the same disorder. There are several different types of inherited bone marrow failure syndrome, and patients with one of them are at high risk of forming acute leukemia or certain solid tumors.NCI-GLOSS
FULL_SYN
  • inherited bone marrow failure syndromePTNCI-GLOSSCDR0000446549
  • IBMFSPTNCI-GLOSSCDR0000458026
  • IBMFSABNCI
  • Inherited Bone Marrow Failure SyndromePTNCI
DEFINITION
  • A group of inherited genetic hematopoietic stem cell disorders characterized by bone marrow failure that involves one or more cell lines. Representative examples include Fanconi anemia, Diamond-Blackfan anemia, and Shwachman-Diamond syndrome.NCI
code
  • C94810
is rdfs:subClassOf of
Faceted Search & Find service v1.16.121 as of Mar 31 2025


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]
OpenLink Virtuoso version 07.20.3240 as of Mar 31 2025, on Linux (x86_64-pc-linux-gnu), Single-Server Edition (126 GB total memory, 55 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2025 OpenLink Software