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Curate a dismech entry for coenzyme Q10 deficiency (MONDO:0018151) — primary CoQ10 biosynthesis defects (COQ2, COQ4,
COQ8A/B, PDSS1/2) causing a mitochondrial multisystem spectrum including encephalomyopathy, ...
curation
enhancement
high_effort
kevinschaper
Curate a dismech entry for congenital isolated hyperinsulinism (MONDO:0019010) — the most common cause of persistent
neonatal hypoglycemia, driven by dysregulated pancreatic beta-cell insulin secretion ...
curation
enhancement
high_effort
Curate a dismech entry for congenital generalized lipodystrophy (MONDO:0006536) — Berardinelli-Seip congenital
lipodystrophy (AGPAT2, BSCL2, CAV1, PTRF) with near-absent adipose tissue, severe insulin ...
curation
enhancement
Curate a dismech entry for Rothmund-Thomson syndrome (MONDO:0010002) — a RECQL4/ANAPC1-related genodermatosis with
poikiloderma, skeletal dysplasia, and predisposition to osteosarcoma, reflecting defective ...
curation
enhancement
high_effort
Curate a dismech entry for oculocutaneous albinism (MONDO:0018910) — inherited defects of melanin biosynthesis (TYR,
OCA2, TYRP1, SLC45A2) causing hypopigmentation of skin, hair, and eyes with foveal hypoplasia ...
curation
enhancement
Part of #1411 · Phase 4 · closes the epic and makes recurrence #12 impossible.
Goal
Migrate the remaining empty-capable verbs onto the Resolution T envelope (P3) and add a CI guard so a configured input ...
approved-enhancement
enhancement
needs-triage
type: chore
trek-e
Part of #1411 · Phase 3 · generalizes P2 s provenance into one reusable diagnostic contract.
Goal
The emit a diagnostic when a configured input resolves empty half of every fix in this class is hand-rolled ...
approved-enhancement
enhancement
type: chore
Curate a dismech entry for distal hereditary motor neuronopathy, autosomal dominant (MONDO:0015362) — a length-dependent
motor axonopathy (distal spinal muscular atrophy) caused by dominant variants in ...
curation
enhancement
Part of #1411 · Phase 2 · implements sub-rules 2 3 (provenance + visible degradation) of ADR-1411 (#1412). Delivers the
#1366 fix.
Goal
loadConfig returns config and where it came from, so callers stop ...
approved-enhancement
enhancement
Part of #1411 · Phase 1 · implements sub-rule 1 (deterministic anchoring) of ADR-1411 (#1412).
Goal
One walk-up owns project root. Today the ancestor walk lives in findProjectRoot (src/project-root.cts, ...
approved-enhancement
enhancement
type: chore
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Learn how you can use GitHub Issues to plan and track your work.
Save views for sprints, backlogs, teams, or releases. Rank, sort, and filter issues to suit the occasion. The possibilities are endless.Learn more about GitHub IssuesProTip! Restrict your search to the title by using the in:title qualifier.