| Resource | Identifier | Preferred name in that resource | Notes |
|---|---|---|---|
| OMIM | 615722 | Bosch–Boonstra–Schaaf Optic Atrophy Syndrome | Explicitly stated in retrieved review and primary papers; also abbreviated BBSOAS/BBSOA in some sources (pqac-00000009, pqac-00000014, pqac-00000015, pqac-00000016, pqac-00000017) |
| Orphanet | ORPHA 401777 | Bosch–Boonstra–Schaaf Optic Atrophy Syndrome | Explicitly stated in Jurkute et al. 2021 and Bertacchi et al. 2022 review excerpts (pqac-00000001, pqac-00000015) |
| MONDO | not retrieved in this run | not retrieved in this run | No MONDO identifier was present in retrieved evidence (pqac-00000000, pqac-00000001) |
| MeSH | not retrieved in this run | not retrieved in this run | No MeSH descriptor was present in retrieved evidence (pqac-00000000, pqac-00000001) |
| ICD-10 | not retrieved in this run | not retrieved in this run | No ICD-10 code was present in retrieved evidence (pqac-00000001, pqac-00000004) |
| ICD-11 | not retrieved in this run | not retrieved in this run | No ICD-11 code was present in retrieved evidence (pqac-00000001, pqac-00000004) |
| Gene (causal disease gene) | OMIM 132890 | NR2F1 | Disease is caused by pathogenic variants/haploinsufficiency of NR2F1; included here because multiple sources explicitly pair disease identifier with gene identifier (pqac-00000009, pqac-00000015, pqac-00000007) |
| Cytogenetic locus | 5q15 | NR2F1 locus / chromosome 5q15 | Retrieved as the gene locus associated with the disorder, not a disease identifier per se (pqac-00000015) |
| Alternative disease label in literature | NR2F1-related neurodevelopmental disorder | not a formal database identifier in retrieved evidence | Used in newer literature/case discussions as broader terminology encompassing BBSOAS phenotypic spectrum; formal resource identifier not retrieved here (pqac-00000003) |
| Alternative disease label in literature | BBSOA syndrome | Bosch-Boonstra-Schaaf optic atrophy syndrome | Variant spelling/abbreviation used in some sources, especially 2019 mouse-model paper (pqac-00000016) |


*Table: This table compiles the standardized identifiers and nomenclature for Bosch–Boonstra–Schaaf optic atrophy syndrome that were explicitly supported by the retrieved evidence. It also marks major resources where identifiers were not retrieved in this run, which helps distinguish confirmed facts from gaps in the current evidence collection.*