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amyotrophic lateral sclerosis
Schimke immuno-osseous dysplasia
Spinocerebellar ataxia with neuropathy type 1
Fanconi Anemia
asthma
a disorder of sterol metabolism regulating behavior and neural…
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Monarch seems to consider [Orphanet:98855](http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98855) equivalent to [MESH:D020389](https://www.nlm.nih.gov/cgi/mesh/2016/MB_cgi?exact&field=uid…
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tracked from https://github.com/monarch-initiative/monarch-disease-ontology/issues/412.
Orphanet_199 has the source definition from http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&dat…
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Three newer fanconi complementation groups are missing from this [page](https://monarchinitiative.org/disease/DOID:13636#overview)
FANCU (XRCC2)
FANCR (RAD51)
FANCV (REV7)
Also three genes that …
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_From @larrybabb on September 23, 2016 19:34_
https://monarchinitiative.org/disease/OMIM:144010
is a parent of
https://monarchinitiative.org/disease/OMIM:143890
in the emerge network we are trying t…
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http://purl.obolibrary.org/obo/Orphanet_308380
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(From @pnrobinson:) EHLERS-DANLOS SYNDROME, BEASLEY-COHEN TYPE is n=1 disease
...we have not found an n=2 since the original publication in 1979, means probably that this OMIM entry needs to be ret…
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http://purl.obolibrary.org/obo/MESH_C535417
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```
is_a EFO:0000408 ! disease
is_a EFO:0000616 ! neoplasm
is_a EFO:0000311 ! cancer
is_a EFO:0000313 ! carcinoma
is_a EFO:0000305 ! breast carcinoma
is_a EFO:0000653 …