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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:thrombocytopenia 2
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Accession:EFO:MONDO:0008555 term browser browse the term
Definition:An autosomal dominant disorder caused by mutation(s) in the ANKRD26 gene, encoding ANKRD26 protein. Additionally, in one family, a mutation(s) has been identified in the MASTL gene, encoding serine/threonine-protein kinase greatwall. The condition is characterized by mild to moderate bruisability.
Synonyms:exact_synonym: thrombocytopenia type 2
 related_synonym: THC2;   thrombocytopenia autosomal dominant 2
 alt_id: MONDO:0008555
 xref: GARD:5191;   MEDGEN:349976;   MESH:C536519;   MIM:188000;   NANDO:2200663;   NCI:C129035;   UMLS:C1861185
 see_also: https://rarediseases.info.nih.gov/diseases/5191/thrombocytopenia-2" xsd:anyURI {source="GARD:0005191


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Path 1
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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          genetic disorder 0
            inherited thrombocytopenia 0
              thrombocytopenia 2 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
                thrombocytopenia 2 0
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