| Preferred name | Key synonyms | Causal gene | Inheritance | OMIM IDs mentioned in evidence | MONDO ID in retrieved evidence | Key references (year; DOI/URL) |
|---|---|---|---|---|---|---|
| Niemann-Pick disease type B; chronic visceral acid sphingomyelinase deficiency (ASMD) (pqac-00000021, pqac-00000024) | Acid sphingomyelinase deficiency type B; ASMD type B; chronic visceral ASMD; NPD type B; Niemann–Pick disease type B (pqac-00000016, pqac-00000018, pqac-00000022, pqac-00000023, pqac-00000024) | **SMPD1** / sphingomyelin phosphodiesterase 1 (pqac-00000015, pqac-00000018, pqac-00000021, pqac-00000022, pqac-00000023) | Autosomal recessive (pqac-00000018, pqac-00000021, pqac-00000022, pqac-00000023) | Disease OMIM: **607616** for NPD type B / chronic visceral ASMD; related disease OMIM: **257200** for type A; gene MIM/OMIM: **607608** for *SMPD1* (pqac-00000018, pqac-00000021, pqac-00000024) | **MONDO_0100464** for acid sphingomyelinase deficiency; disease-target evidence links **SMPD1** to ASMD (pqac-00000000) | Geberhiwot et al. 2023, doi:10.1186/s13023-023-02686-6, https://doi.org/10.1186/s13023-023-02686-6 (pqac-00000018); Lipiński et al. 2024, doi:10.17219/acem/193696, https://doi.org/10.17219/acem/193696 (pqac-00000021); Lipiński et al. 2019, doi:10.1186/s13023-019-1029-1, https://doi.org/10.1186/s13023-019-1029-1 (pqac-00000024); McGovern et al. 2021, doi:10.1186/s13023-021-01842-0, https://doi.org/10.1186/s13023-021-01842-0 (pqac-00000016); Mauhin et al. 2024, doi:10.1186/s13023-024-03234-6, https://doi.org/10.1186/s13023-024-03234-6 (pqac-00000023) |


*Table: This table summarizes the core disease naming, synonyms, genetic basis, inheritance, and identifiers for Niemann-Pick disease type B/chronic visceral ASMD using only retrieved evidence. It is useful as a compact normalization reference for a disease knowledge base entry.*