| Identifier system | Identifier | Entity (disease/subtype/gene) | Notes (inheritance/causal gene) |
|---|---|---|---|
| MONDO | MONDO:0016830 | Emery-Dreifuss muscular dystrophy | Overall EDMD disease entity in OpenTargets/Monarch disease mapping; associated targets include LMNA, EMD, FHL1, SYNE1/2, TMEM43. URL: https://platform.opentargets.org/disease/MONDO_0016830 (pqac-00000000) |
| MONDO | MONDO:0010680 | X-linked Emery-Dreifuss muscular dystrophy | X-linked EDMD; OpenTargets links this entity to EMD and FHL1. URL: https://platform.opentargets.org/disease/MONDO_0010680 (pqac-00000000) |
| MONDO | MONDO:0021569 | Emery-Dreifuss muscular dystrophy 2, autosomal dominant | Autosomal dominant EDMD2; linked to LMNA. URL: https://platform.opentargets.org/disease/MONDO_0021569 (pqac-00000000) |
| MONDO | MONDO:0013071 | Emery-Dreifuss muscular dystrophy 4, autosomal dominant | Autosomal dominant EDMD4; linked to SYNE1. URL: https://platform.opentargets.org/disease/MONDO_0013071 (pqac-00000000) |
| MONDO | MONDO:0013677 | Emery-Dreifuss muscular dystrophy 7, autosomal dominant | Autosomal dominant EDMD7; linked to TMEM43. URL: https://platform.opentargets.org/disease/MONDO_0013677 (pqac-00000000) |
| OMIM phenotype | OMIM #310300 | EDMD1 / classical X-linked EDMD | X-linked EDMD caused by EMD variants; explicitly reported in review text as classical X-linked EDMD. DOI source: https://doi.org/10.3390/jcm15093286 (pqac-00000043) |
| OMIM phenotype | OMIM #181350 | EDMD2 / autosomal dominant EDMD | Autosomal dominant EDMD caused by LMNA variants; explicitly reported in review text. DOI source: https://doi.org/10.3390/jcm15093286 (pqac-00000043) |
| OMIM phenotype | OMIM #616516 | EDMD3 / autosomal recessive EDMD | Rare autosomal recessive EDMD; reported by Rahmuni et al. 2024. DOI source: https://doi.org/10.1159/000538917 (pqac-00000044) |
| OMIM gene | OMIM #300384 | EMD | Encodes emerin; major causal gene for EDMD1/X-linked EDMD. DOI source: https://doi.org/10.3390/jcm15093286 (pqac-00000043) |
| OMIM gene | OMIM #150330 | LMNA | Encodes lamin A/C; major causal gene for EDMD2/autosomal dominant EDMD. DOI source: https://doi.org/10.3390/jcm15093286 (pqac-00000043) |
| OMIM gene | OMIM #612048 | TMEM43 | Gene linked to EDMD7/autosomal dominant EDMD in retrieved review text. DOI source: https://doi.org/10.3390/jcm15093286 (pqac-00000046) |
| OMIM gene | OMIM #125660 | DES | Desmin; referenced as related nuclear-cytoskeletal/cardiac phenotype gene in EDMD spectrum review. DOI source: https://doi.org/10.3390/jcm15093286 (pqac-00000046) |
| Not extracted from retrieved full text | — | Orphanet / MeSH / ICD | Orphanet ORPHAcode, MeSH descriptor, and ICD-10/ICD-11 codes were not extracted from the retrieved full-text evidence used here. (pqac-00000043, pqac-00000044, pqac-00000045) |


*Table: This table summarizes the core disease and gene identifiers for Emery-Dreifuss muscular dystrophy and key genetic subtypes, integrating MONDO/OpenTargets and OMIM evidence. It is useful for disease knowledge-base normalization and subtype-to-gene mapping.*