| Disease / scope | Common synonyms in current evidence | Causal gene | Inheritance | OMIM / disease number in evidence | MONDO ID in current evidence | Key clinical trial IDs in current evidence | Notes |
|---|---|---|---|---|---|---|---|
| CLN3 disease | CLN3 disease; CLN3 Batten disease; juvenile neuronal ceroid lipofuscinosis; JNCL; juvenile Batten disease; Batten disease (pqac-00000005, pqac-00000011, pqac-00000018, pqac-00000046) | CLN3 (pqac-00000005, pqac-00000025, pqac-00000046) | Autosomal recessive / caused by biallelic CLN3 variants (pqac-00000005, pqac-00000025, pqac-00000046) | OMIM #204200 for CLN3 disease was explicitly mentioned in current evidence (pqac-00000024) | CLN3-specific MONDO not extracted in current evidence; use broader NCL MONDO below if needed (pqac-00000000) | NCT03770572; NCT03307304; NCT01399047; NCT05174039; NCT04637282; NCT01873924 (pqac-00000001, pqac-00000034, pqac-00000035, pqac-00000037) | Most affected individuals carry a common ~1 kb / 966 bp / 1.02 kb CLN3 deletion affecting exons 7-8 in the cited literature (pqac-00000005, pqac-00000025) |
| Neuronal ceroid lipofuscinosis (broader disease family entry relevant to CLN3) | neuronal ceroid lipofuscinosis; NCL; Batten disease (pqac-00000005, pqac-00000011) | Multiple genes in broader family; CLN3 is one supported associated target for this family-level term (pqac-00000000) | not retrieved in current evidence for the family-level umbrella term | not retrieved in current evidence | MONDO_0016295 (neuronal ceroid lipofuscinosis) (pqac-00000000) | not retrieved in current evidence for the umbrella term | This MONDO is broader than CLN3 disease and should not be assumed CLN3-specific (pqac-00000000) |


*Table: This table summarizes the disease names, synonyms, gene, inheritance, identifiers, and clinical trial IDs for CLN3 disease using only retrieved evidence. It is useful for harmonizing nomenclature and database mapping while clearly distinguishing supported identifiers from those not retrieved.*