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obophenotype / human-phenotype-ontology

Ontology for the description of human clinical features
http://obophenotype.github.io/human-phenotype-ontology/
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New Platelet terms #2354

Closed pnrobinson closed 7 years ago

pnrobinson commented 7 years ago

(From Kathleen Freson):

  1. Under “Abnormal platelet membrane protein expression” Decreased platelet thromboxane A2 receptor Definition. Decreased cell membrane concentration of thromboxane A2 receptor (TP) receptor that is stimulated but thromboxane A2 (TBXA2). OMIM614009 Decreased platelet alpha-2A-adrenergic receptor Definition. Decreased cell membrane concentration of alpha-2A adrenergic receptor that is stimulated by epinephrine. OMIM104210

  2. Under “Abnormal platelet function” Impaired clot retraction Definition. Platelets contain contractile proteins (actin and myosin) that induce clot retraction. As the platelets contract, they pull on the surrounding fibrin strands, squeezing serum form the mass, compacting the clot and drawing the ruptured edges of the blood vessel more closely together. Clot Retraction is directly proportional to the platelet count and inversely proportional to the fibrinogen concentration. OMIM 273800 Glanzmann Thrombastenia

  3. Under “Impaired platelet aggregation” Impaired convulxin-induced platelet aggregation Definition. Abnormal response to convulxin as manifested by reduced or lacking aggregation of platelets upon addition of convulxin.

Impaired collagen-related peptide-induced platelet aggregation Definition. Abnormal response to collagen-related peptide (CRP) as manifested by reduced or lacking aggregation of platelets upon addition of CRP.

Impaired phorbol myristate acetate-induced platelet aggregation Definition. Abnormal response to phorbol myristate acetate (PMA) as manifested by reduced or lacking aggregation of platelets upon addition of PMA.

Impaired Calcium Ionophore (A23187)-induced platelet aggregation Definition. Abnormal response to Calcium Ionophore (A23187) as manifested by reduced or lacking aggregation of platelets upon addition of A23187.

  1. Under “Abnormal platelet function” NEW Abnormal plalelet phosphatidylserine (PS) exposure Definition. An abnormality of phosphatidylserine (PS) on activated platelets. Normally, platelets bind the PE ligand annexin V when stimulated with combinations of platelet agonists or being activated. With the subterms Impaired annexin V binding Definition. Decreased phosphatidylserine (PS) exposure on platelets OMIM 262890 Scott syndrome PMID:26414452 Increased annexin V binding Definition. Increased phosphatidylserine (PS) exposure on platelets OMIM 185070 Stormorken Syndrome PMID:24619930
pnrobinson commented 7 years ago

I have added these terms but am uncertain about the definitions for the following: With the subterms Impaired annexin V binding Definition. Decreased phosphatidylserine (PS) exposure on platelets OMIM 262890 Scott syndrome PMID:26414452 Increased annexin V binding Definition. Increased phosphatidylserine (PS) exposure on platelets OMIM 185070 Stormorken Syndrome PMID:24619930 I will get in touch with KF about this.