Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS


Term:autosomal dominant macrothrombocytopenia
go back to main search page
Accession:EFO:MONDO:0015372 term browser browse the term
Definition:This syndrome is characterized by congenital thrombocytopenia associated with the presence of large platelets.
Synonyms:alt_id: MONDO:0015372
 xref: GARD:16965;   MEDGEN:929690;   ORDO:140957;   SCTID:720521008;   UMLS:C4304021



show annotations for term's descendants           Sort by:

Term paths to the root
Path 1
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          genetic disorder 0
            inherited thrombocytopenia 0
              autosomal dominant macrothrombocytopenia 0
                macrothrombocytopenia, isolated, 2, autosomal dominant 0
                platelet-type bleeding disorder 15 0
Path 2
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          hematologic disease 0
            blood platelet disease 0
              inherited thrombocytopenia 0
                autosomal dominant macrothrombocytopenia 0
                  macrothrombocytopenia, isolated, 2, autosomal dominant 0
                  platelet-type bleeding disorder 15 0
paths to the root