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Description
Problem
In PR #284 (Morgagni-Stewart-Morel Syndrome), the automated review noted that the diabetes insipidus phenotype lacks supporting evidence.
Source: Claude review comment in PR #284
"The diabetes insipidus phenotype has no evidence items. The description states it 'has been reported' but doesn't provide a reference."
Location: kb/disorders/Morgagni-Stewart-Morel_Syndrome.yaml, lines 554-564
Current State
The diabetes insipidus phenotype is included in the entry with frequency annotation HP_0040284 (very rare), but has no evidence items to support its inclusion.
The description states: "Diabetes insipidus has been reported rarely in association with MSM syndrome, potentially related to hypothalamic-pituitary dysfunction."
Proposed Solutions
Option 1: Add supporting evidence if available
- Search the literature for case reports or studies documenting diabetes insipidus in MSM syndrome patients
- Add evidence items with PMIDs, snippets, and explanations
Option 2: Add a clarifying note
If direct evidence is unavailable but historically reported:
description: >
Diabetes insipidus has been reported rarely in historical case series
of MSM syndrome, potentially related to hypothalamic-pituitary dysfunction.
However, this association is poorly documented in modern literature.Option 3: Remove the phenotype
If insufficient evidence exists and it's not well-documented, consider removing it entirely.
Guidelines Reference
Per dismech guidelines (CLAUDE.md):
"Per dismech guidelines, phenotypes without evidence are acceptable but less ideal from a compliance perspective."
While acceptable, adding evidence would improve the entry's compliance score and scientific rigor.
References
- PR Add Morgagni-Stewart-Morel Syndrome #284: Morgagni-Stewart-Morel Syndrome
- Dismech CLAUDE.md guidelines