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**Mondo term (ID and Label)**
MONDO:0035454 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome
**Reason for deprecation**
ORDO term is exact match to OMIM 609296 see http://www…
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I've been using `data/hgnc/hgnc_complete_set.txt`, which is provided by EBI. But it is not reliable.
I should use `data/hgnc/Homo_sapiens.gene_info`, which can be obtained at [https://ftp.ncbi.nlm.…
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The condition listed in MONDO: Weiss-Kruszka Syndrome MONDO:0032836 has exact match
https://omim.org/entry/618619 with dbxref OMIM:618619. It is not currently tagged as rare in MONDO but it is a ra…
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OMIM:MTHU004643 (joint hypermobility) does not normalize, but I believe it should be connected to this cluster
```json
{
"HP:0001382": {
"id": {
"identifier": "HP:0001382",
"la…
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I reviewed https://docs.google.com/spreadsheets/d/1w5Xnzr5uNFcPrQqCT8mGBFHnGhwXDfQVzHKofw6kB7c/edit#gid=244617092
1) the created mapping (when there is a MONDO:id) are correct for all the one I che…
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Hi Marie Cecile! Orphanet has this as a key word for several conditions but does not include the term in the database. All or some of the conditions with the key word link to OMIM craniofacial mi…
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Add data from OMIM for epimutations annotated to genes, based on Illumina Annotation.
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Hello,
InterVar databases seem to need update regarding the OMIM database domain.
Some variants, while the corresponding phenotypes well annotated in the recent OMIM, are nonexistent in the mim_phen…
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Ingest to capture Alliance [gene/allele/genotype] to disease associations. We can expect this ingest to have a lot of associations that we don't want to bring into Monarch, for example, one of the val…
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Hello,
A new creation request, in this case following a call to the Romande helpline concerning a 6-year-old child being followed up in Paris.
References:
- PMID: 30500825 - “Hiatt et al. (2018…