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Mondo Disease Ontology
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MONDO:0957426 autosomal recessive hyper-IgE syndrome #7844

Open kanems opened 4 days ago

kanems commented 4 days ago

Mondo term (ID and Label): MONDO:0957426 autosomal recessive hyper-IgE syndrome

Suggested new label: If this is, indeed an exact match to Orphanet 641368 , then the pref name should be Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency and this would suggest it is the same concept as OMIM 618282 HYPER-IgE SYNDROME 3, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS (associated with AR mutation in ZNF341)

BUT the Orphanet term maps to multiple OMIM records, https://www.orpha.net/en/disease/detail/641368 which suggests that there may be some error with the Orphanet record either in name or mappings? It seems like either it should be broader and generic in name for all AR hyper-IgE syndromes, as named in Mondo OR it should be narrow and exactly match 1 and only 1 MIM record. I will send a message via Orphanet's site as well to try and get clarification.

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kanems commented 3 days ago

Orphanet's email reply to my webform contact:

The ORPHAcode ORPHA:641368 has recently been revised and explicitly restricted to “Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency”, which corresponds to OMIM: 618282. Additionally, the following specific codes have been created, in line with the medical and scientific literature and IUIS 2022 classification of IEIs (PMID: 35748970, PMID: 36198931) :

 ORPHA:656326 - Autosomal recessive combined immunodeficiency due to IL6R deficiency - OMIM : 618944  ORPHA:656283 - Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency - OMIM : 619751  ORPHA: 656300 - Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency - OMIM : 618523  ORPHA:656313 - Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency - OMIM : 619752  ORPHA:656912 - Autosomal dominant combined immunodeficiency due to ERBIN deficiency- No corresponding OMIM  ORPHA:217390 - Combined immunodeficiency due to DOCK8 deficiency - OMIM: 243700  ORPHA:443811 - PGM3-CDG - OMIM: 615816

Accordingly, the OMIMs specified on the page of ORPHA: 641368 “Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency” will soon be corrected to OMIM: 618282 only.

sagehrke commented 3 days ago

Dear @kanems, Thank you for reaching out to the Mondo Disease Ontology, part of the Monarch Initiative!

We have received your ticket and will review it as soon as possible.

If you have any additional information or updates relevant to your inquiry, please add them in a comment on this ticket. Your input is valuable in helping us understand and resolve the issue effectively.

Thank you for your patience and for your contributions to Mondo!

Sincerely, The Mondo Team