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I don't understand what it means for mouse gene Sp7 to have a 100% similarity score to Melnick-Needles Syndrome, http://monarchinitiative.org/disease/OMIM_309350
especially when the top human hit is o…
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- HP:0003623 ! Neonatal onset
has no children. Are these in scope of HPO?
(request from Ben Hutton)
Reported by: cmungall
Original Ticket: [obo/human-phenotype-requests/383](https://sourceforge.ne…
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Originally reported on Google Code with ID 16
```
In Uberpheno@charite I see that "Long fingers" is a subclass of "Short toe" which is
definitely wrong.
IMHO it is the definition of Arachnodactyly t…
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Originally reported on Google Code with ID 42
```
I’ve had a look at “Pectus excavatum” (HP:0000767) in the F1000-uberpheno and vertebrate.owl-version,
since the inferences were the same. However, I…
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Pull from this repo, not gcode
https://code.google.com/p/phenotype-ontologies/issues/detail?id=136
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Originally reported on Google Code with ID 15
```
In Uberpheno@charite I see that "Abnormality of ion homeostasis" (HP:0003111) is inferred
to be a subclass_of "abnormal blood homeostasis" MP:0009642…
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Originally reported on Google Code with ID 33
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HP Onset hierarchy should have equivalence classes using HsapDv
See:
https://code.google.com/p/developmental-stage-ontologies/wiki/HsapDv
```
Repor…
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we need to load in the common disease associations.
the repo is here: https://github.com/monarch-initiative/hpo-annotation-data
@drseb this seems to be a mixture of all the diseases. will you be sp…
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add omim data source, esp to get classes, labels, and descriptions.
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Hi All,
As has been raised at least once in the past, there is some inconsistency in the availability of the modifiers "mild", "moderate", "severe". Recently a user was wondering if these concepts wo…