Revise eye diseases related to 'anterior segment dysgenesis'

[allenbaron]

'iridogoniodysgenesis syndrome' (DOID:0050786) and 'anterior segment dysgenesis' (DOID:0060648) are likely the same disease, based on OMIM xrefs. Please review and merge as appropriate.

[allenbaron]

An old issue from Mondo #203 also addressed this, though not in the detail we need.

'iridogoniodysgenesis syndrome' (DOID:0050786) appears to be from the lumping of two subtypes based on synonyms and xrefs, with the definition still only reflecting one subtype. The easiest solution would be to make this a parent term, correct the definition and add the subtypes.

Reviewing further, it appears that OMIM has reorganized the subtypes of 'iridogoniodysgenesis syndrome' as children of 'anterior segment dysgenesis' (DOID:0060648). These subtypes are already in the DO as ASGD3 (IRID1; DOID:0080608) and ASGD4 (IRID2; DOID:0080609). None of these acronyms are listed in DO. None of the ASGD acronyms or IRID synonyms or acronyms are annotated on these subtypes.

Given this information we can just update the definition of 'iridogoniodysgenesis syndrome' (DOID:0050786) and add it as the intermediate parent of the two ASGD subtypes it applies to.

[allenbaron]

A StatPearls article on 'Iridocorneal Dysgenesis'¹ has information about iridogoniodysgenesis. The article as a whole treats its topic as though it's a synonym of 'anterior segment dysgenesis' (DOID:0060648). This is the current parent of the two subtypes and corresponds to the phenotypic series from OMIM but the article refers to A LOT of other diseases that are not currently children of this parent but are already in the DO, such as 'Axenfeld-Rieger syndrome' (DOID:14686), 'Peters anomaly' (DOID:0060673), 'primary congenital glaucoma' (DOID:0050593), etc. Some of these are in other OMIM phenotypic series and appear as grouping terms in DO. Others may not yet be in the DO (need to examine this).

It seems ASGD (DOID:0060648)--to use the OMIM acronym--may have a much more expansive meaning in clinical practice that how OMIM has used it. This is going to cause some problems. It looks as is Orphanet has used the term in this much broader sense, though they refer to it as 'Anterior segment developmental anomaly' (ORDO:88632). This is currently an xref on DOID:0060648.

This suggests we likely need to review the literature to explore revising the classification of these diseases. I'm not sure how we'll handle OMIM's use of the term with such a narrow scope.

Footnotes

1. Singh P, Gupta A, Tripathy K. Iridocorneal Dysgenesis. [Updated 2023 Aug 25]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK585064/ ↩

[allenbaron]

I was going to address 'iridogoniodysgenesis syndrome' (DOID:0050786) directly by making it an intermediate parent of ASD3 & 4 and revising it's definition by removing the genetic cause but the OMIM entries for ASGD3 & 4 suggest that these diseases can be classified as multiple subtypes with iridogoniodysgenesis being a subtype, which may mean it's not an appropriate parent.

I also just discovered that 'Peters anomaly' (DOID:0060673) cross-references ASGD5 in OMIM. This likely means it's the same as DOID:0080610.

It's clear there's a lot going on here and a comprehensive review is needed before making these changes to ensure that everything is correct.

[allenbaron]

I've created a curation spreadsheet for this task: Curation_Review-Anterior_Segment_Dysgenesis.