Activity for Peter N. Robinson
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Peter N. Robinson posted a comment on ticket #493
Add synonym to : Macroorchidism http://compbio.charite.de/hpoweb/showterm?id=HP:0000053...
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DIAB ontology new term suggestions
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Obliteration of frontal sinuses
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brachial plexus neuropathy
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HbS
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Increased HbA2
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large noncompacted trabeculae
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ciliary body coloboma
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Added term and annotation
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ciliary body coloboma
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Therapeutic abortion
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Added term as HP_0030449
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More soft tissue sarcoma
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request for HPO term additions for four conditions
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Thanks for the suggestions. Have added the following terms as well as some more specific...
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Anxiety Disorders (#1001850)
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This is OK, anxiety disorder is listed as a RELATED_SYNONYM (it is a disease that...
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additional HPO term needed
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Added terms for anal canal neoplasm and anal margin neoplasm as well as a number...
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Anxiety Disorders (#1001850)
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Dear Courtney, I am going to continue with your second term request shortly. There...
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Added nearly all of the requested terms and reordered a few parts of the relvant...
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Many new terms for specific neoplasms
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Many new terms for specific neoplasms
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CACNA1A phenotype annotation
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After reconsideration of this publication, I am not sure it is certain that the disease...
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Term request: Deficit in word recognition
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I have added this term as "Spoken Word Recognition Deficit" (HP_0030391) Def: Reduced...
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eicosanoid metabolism
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Added some terms from this hierarchy (backbone). Furhter work will be needed in the...
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IgD–IgM–CD27+ class-switched memory B cells reduced
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Added a hierarchy of terms for circulating B cells including this (HP_0030388)
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Dear Courtney, There was a little blip in the system, but the new terms should be...
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I just added the terms so they should percolate to the public server by tomorrow....
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Accessory bone between metacarpal and proximal phalanx
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Added term as HP_0030368. I do not think that the other potential forms of hyperphalangy...
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Additional mode of delivery terms
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Thanks for these suggestions. I have added terms for all of these except "spontaneous...
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Term: Carnitine deficiency in muscle
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New Metabolic and Endocrine section headers
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Dear Courtney, I am not sure what you are referring to, there is no "other" heading...
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New Metabolic and Endocrine section headers
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Small-cell lung cancer
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High levels of interferon gamma
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Low levels of insulin-like growth factor I (in most patients)
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urticarial plaque
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erythematous papule
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Done
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Add synonyms hyperferritinemia
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elevated androgen level
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Elevated plasma LH Elevated plasma FSH
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Elevated plasma LH Elevated plasma FSH
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elevated androgen level
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Small-cell lung cancer
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High levels of interferon gamma
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High levels of interferon gamma
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Added the Mendelian genes/diseases in this list. Some of the entries are not Mendelian,...
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28 likely genes to be annotated
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IgD–IgM–CD27+ class-switched memory B cells reduced
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Add synonyms hyperferritinemia
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28 likely genes to be annotated
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Fructosuria was already annotated Added CEP19, ASB10, MICU1, EPS8, MIP Ichthyosis,...
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The LARS gene was already annotated Added entries for ENTPD1, PACS1, SCN2B, HNRNPA1,...
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53 Gene annotations in HPO
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53 Gene annotations in HPO
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Added entries for CRIPT, TDGF1,GSHR, LRPAP1, LARS (done up to line 25)
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Low levels of insulin-like growth factor I (in most patients)
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Some of the terms are not compatible with the HPO definitions so far (that are based...
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How to describe specific neonatal stages
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I have been searching around for this but do not see any classification of stages...
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some "disease" annotations are really to "genes"
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urticarial plaque
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erythematous papule
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Term: Carnitine deficiency in muscle
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CACNA1A phenotype annotation
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Please see my comments about photophobia, they apply here too. Phonophobia is defined...
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phonophobia in HPO
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photophobia in HPO
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Photophobia is a child of abnormality of vision as well as behavioral abnormality...
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Good reference: http://themedicalbiochemistrypage.org/eicosanoids.php
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eicosanoid metabolism
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Sent annotations to SK for this entry.
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ITGB6
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ITGB6
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Revising annotations based on new terms added t...
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Added term. The remaining hierarchy will need expansion as well.
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absence of CD4+CD25+ T regulatory cells (Tregs)
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Added this as HP_0030331, Impaired stimulus-induced skin wrinkling Def:A reduced...
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Fingers and toes that do no wrinkle?
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Giant cells (degenerating chondrocytes) in resting zone of epiphyseal cartilage
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Added as HP_0030330
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Thinned retina term request
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Sorry for the delay. I was considering whether to add a section called Retinal OCT...
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An abnormal conformation of the femur that becomes gradually enlarged towards the...
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Textdef "Club-shaped proximal femur"
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Decreased osteoclast cell number
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Done
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increased intervertebral disc spaces (new term)?
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Added term as HP_0030320
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Added definitions for all of these terms. I think that the UBERON term facial muscle...
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