| Identifier system | Identifier/code | Preferred name | Synonyms/aliases | Source URL | Publication date (if source is a paper) | Notes |
|---|---|---|---|---|---|---|
| MONDO | MONDO_0010382 | fragile X-associated tremor/ataxia syndrome | FXTAS; fragile X-associated tremor ataxia syndrome; fragile X tremor ataxia syndrome | https://platform.opentargets.org/disease/MONDO_0010382 | — | Disease identifier and FMR1 association retrieved via OpenTargets disease-target evidence; useful for ontology mapping in knowledge bases (pqac-00000000) |
| OMIM | OMIM #300623 | Fragile X-associated tremor/ataxia syndrome | FXTAS | https://omim.org/entry/300623 | 2023 (paper citing OMIM) | OMIM number explicitly stated in 2023 FXTAS papers/reviews: “FXTAS, OMIM# 300623” (pqac-00000012, pqac-00000009) |
| MeSH / registry labeling | “Fragile X Tremor Ataxia Syndrome” | Fragile X Tremor Ataxia Syndrome | FXTAS | https://clinicaltrials.gov/study/NCT02936531 | 2016 | MeSH-style disease label present in ClinicalTrials.gov record for BNA/gait-posture study; included as a practical nomenclature source rather than a definitive MeSH browser record (pqac-00000007, pqac-00000004) |
| Gene (causal) | FMR1 | fragile X messenger ribonucleoprotein 1 | fragile X mental retardation 1; FMR1 premutation gene context | https://platform.opentargets.org/target/ENSG00000102081 | — | Only disease-associated target returned by OpenTargets for FXTAS; premutation range in FXTAS is 55–200 CGG repeats in the 5′ UTR (pqac-00000000, pqac-00000001, pqac-00000016) |
| Variant class | FMR1 premutation, 55–200 CGG repeats | FMR1 premutation-associated FXTAS | premutation carrier state | https://doi.org/10.1002/mds.21493 | 2007 | Canonical molecular definition from landmark review; still used in recent reviews and trial records for diagnosis/testing guidance (pqac-00000001, pqac-00000004, pqac-00000016) |
| Disease name (preferred clinical usage) | — | Fragile X-associated tremor/ataxia syndrome | FXTAS | https://doi.org/10.3389/fnagi.2022.1073258 | 2023 | Modern preferred disease name used in recent primary literature and reviews; adult-onset neurodegenerative disorder of FMR1 premutation carriers (pqac-00000012, pqac-00000010) |
| Alternate spelling | — | Fragile-X-associated tremor/ataxia syndrome | Fragile-X associated tremor/ataxia syndrome | https://doi.org/10.3390/ijms26062825 | 2025 | Hyphenated form appears in recent literature; nomenclature variant only, same disease concept (pqac-00000015) |
| Historical/abbreviated disease label | FXTAS | FXTAS | fragile X-associated tremor/ataxia syndrome | https://doi.org/10.3389/fneur.2026.1746002 | 2026 | Widely used abbreviation across clinical reviews, management papers, and trials; recommended to store as exact synonym (pqac-00000005, pqac-00000020) |


*Table: This table summarizes key identifiers and naming conventions for fragile X-associated tremor/ataxia syndrome, including ontology and OMIM references plus the causal gene. It is useful for harmonizing disease records across clinical, genomic, and knowledge-base resources.*