Dystonia 24 (DYT24 / DYT-ANO3): A Comprehensive Disease Characteristics Report

Disease: Dystonia 24 (DYT24, DYT-ANO3) MONDO ID: MONDO:0014019 · OMIM: #615034 · Gene: ANO3 (anoctamin 3 / TMEM16C), 11p14.3 Category: Mendelian, autosomal dominant · Report date: 2026-10-08

Summary

Dystonia 24 (DYT24, now preferentially designated DYT-ANO3) is a rare, autosomal dominant form of isolated—or occasionally combined—dystonia caused by heterozygous pathogenic variants in ANO3, the gene encoding anoctamin 3 (TMEM16C), an endoplasmic-reticulum–associated, Ca²⁺-dependent phospholipid scramblase/ion channel that is most highly expressed in the striatum. The disorder was defined in 2012 when Charlesworth and colleagues combined linkage analysis with whole-exome sequencing in a UK kindred and identified six putatively pathogenic ANO3 mutations (PMID: 23200863). Its clinical hallmark is tremulous craniocervical dystonia—cervical and laryngeal onset are most typical—with a characteristic dystonic/postural tremor that distinguishes DYT24 from the related DYT6 (THAP1) phenotype and frequently causes misdiagnosis as essential tremor.

Over the subsequent decade the phenotypic spectrum has broadened considerably: from classic adult-onset tremulous craniocervical dystonia to infantile generalized or paroxysmal dystonia, dystonia-ataxia, truncal dystonia, and even early dyskinetic encephalopathy, with onset ranging from the first months of life to the fifth decade. Inheritance is autosomal dominant with reduced, age-dependent penetrance and marked intrafamilial variability. The variant spectrum is overwhelmingly missense, clustering near the transmembrane/scrambling region; genetic constraint data (gnomAD missense Z = 3.66, pLI ≈ 0, LoF tolerated) indicate the mechanism is dominant-negative / gain-of-function, not haploinsufficiency. Functional studies converge on dysregulated intracellular (ER) Ca²⁺ signaling and attenuated Ca²⁺-dependent scramblase activation altering striatal neuronal excitability as the core pathophysiology.

DYT24 is chronic, non-degenerative, and non-fatal (brain MRI is typically normal), but it carries substantial motor and non-motor (pain, depression, anxiety) morbidity. There is no cure or disease-modifying therapy; management is symptomatic—botulinum toxin for focal forms, anticholinergics (trihexyphenidyl), physiotherapy, and globus pallidus internus (GPi) deep brain stimulation, with several reports of marked benefit. Because the disorder is monogenic with no modifiable environmental cause, prevention is limited to genetic counseling, cascade/predictive testing, and reproductive options. The sections below detail each disease-characteristic domain with primary-literature citations.

Key Findings

1. Disease Information

Dystonia 24 is an autosomal dominant, isolated (or combined) craniocervical dystonia caused by heterozygous variants in ANO3. It was established as a distinct entity by Charlesworth et al. (2012), who wrote: "we combined linkage analysis with whole-exome sequencing of two individuals to identify candidate causal variants in a moderately-sized UK kindred exhibiting autosomal-dominant inheritance of craniocervical dystonia" and reported "a total of six putatively pathogenic mutations in ANO3, a gene encoding a predicted Ca(2+)-gated chloride channel that we show to be highly expressed in the striatum" (PMID: 23200863).

Key identifiers:

Synonyms / alternative names: DYT24; DYT-ANO3; ANO3-related dystonia; anoctamin-3 dystonia; craniocervical dystonia (ANO3 type). The information is derived from aggregated disease-level resources (OMIM, ClinVar, gnomAD) and from published case series and functional studies rather than from individual EHR records.

2. Etiology

Primary cause — genetic. DYT24 is a monogenic disorder caused by heterozygous pathogenic variants in ANO3. There is no established environmental, infectious, or toxic cause, and no gene–environment interaction has been demonstrated for this specific entity. The causal variants are overwhelmingly missense (see Finding 5 / Section 4).

Genetic risk factors. The causative variants are themselves the risk determinants; no additional susceptibility loci or validated modifier genes exist for DYT24. In broader (non-monogenic) cervical dystonia, a GWAS identified a genome-wide significant signal near COL8A1 (PMID: 34320236), but this concerns idiopathic cervical dystonia rather than the monogenic ANO3 form.

Environmental / protective factors. None established specifically for DYT24. General observations in idiopathic adult-onset dystonia (e.g., associations of cerebrovascular risk factors with blepharospasm, PMID: 37717501) do not apply to the monogenic ANO3 mechanism. No protective variants or dietary/lifestyle protective exposures are known. Not available / not applicable for the Mendelian DYT24 entity.

3. Phenotypes

The hallmark is tremor. Stamelou et al. (2014) characterized 10 patients from 3 families and reported: "The characteristic feature in all affected individuals was the presence of tremor, which contrasts DYT24 from the typical DYT6 phenotype" (PMID: 24442708). Tremor can be the sole initial manifestation, causing misdiagnosis as essential tremor: "Tremor was the sole initial manifestation in some individuals with ANO3 mutations, leading to misdiagnosis as essential tremor."

Anatomical distribution and onset: "The age at onset ranged from early childhood to the forties. Cervical dystonia was the most common site of onset followed by laryngeal dystonia" (PMID: 24442708). Electrophysiology showed co-contraction of antagonist muscles and a ~6-Hz arm tremor; one patient had subcortical myoclonus (~3 Hz, ~250 ms).

Broadened spectrum (Finding 6): Ousingsawat et al. (2024) described severe pediatric phenotypes: "Two patients exhibited generalized progressive dystonia, while one patient presented with paroxysmal dystonia. Additionally, another patient exhibited early dyskinetic encephalopathy" (PMID: 38079528). Altıntaş (2025) summarized: "The onset of clinical features may vary from the first months of life to adulthood, and cases may present with a wide range of clinical spectrum, from focal/segmental to generalized dystonia, and from isolated to tremulous or jerky dystonia" (PMID: 41441972). Additional reported phenotypes include dystonia-ataxia syndrome (PMID: 39351635), hereditary truncal dystonia (PMID: 39692086), and learning difficulties / mild intellectual disability in several families (PMID: 38284143, PMID: 41441972).

Suggested phenotype table with HPO terms:

Quality of life impact: Craniocervical/cervical dystonia produces pain, disability, and poor quality of life with substantial non-motor burden—depression, anxiety, fatigue, and sleep disturbance (PMID: 33099684; PMID: 41483253).

4. Genetic / Molecular Information

Causal gene: ANO3 (anoctamin 3 / TMEM16C), chromosome 11p14.3, reference transcript NM_031418.4, UniProt Q9BYT9.

Mechanistic class of variants — missense, dominant-negative/GoF (Findings 5 & 10). Genetic constraint from gnomAD v2 (ENSG00000134343, GRCh38) shows pLI ≈ 0 (loss-of-function tolerated: observed/expected LoF = 0.68, LOEUF 0.58–0.81; 99 observed vs 145 expected LoF), but significant missense constraint (Z = 3.66, oe_mis 0.75). This dissociation indicates that pathogenic dystonia alleles act not by haploinsufficiency but through a dominant-negative or gain-of-function mechanism on a missense-intolerant protein.

ClinVar landscape (queried 2026-10-08): 772 ANO3 variant records — 95 Pathogenic, 10 Likely pathogenic, 590 VUS; 398 records annotated with dystonia. Reported pathogenic alleles are missense.

Recurrent / representative pathogenic variants (NM_031418.4):

Notably, a nonsense allele p.(Arg628Ter) is classified VUS, consistent with LoF not being the primary disease mechanism. Variants near the scrambling domain are associated with a more severe, earlier-onset phenotype (PMID: 38284143).

Modifier genes / epigenetics / chromosomal abnormalities: No validated modifier genes, epigenetic mechanisms, or large-scale chromosomal abnormalities are established for DYT24. Not available / not applicable.

Suggested gene/protein annotations: HGNC ANO3; UniProt Q9BYT9 (ANO3_HUMAN); phospholipid scramblase activity; see Section 6 for GO terms.

5. Environmental Information

No environmental, lifestyle, or infectious contributing factors are established for DYT24. As a monogenic disorder, disease is determined by the germline ANO3 variant. Not applicable. (Contextually, idiopathic adult-onset dystonia—a different etiologic category—shows modest associations with cerebrovascular risk factors for blepharospasm, PMID: 37717501, but this does not extend to monogenic ANO3 disease.)

6. Mechanism / Pathophysiology

Ordered causal chain (initiating lesion → clinical manifestation):

1. Heterozygous missense variant in ANO3 (e.g., p.Glu510Lys, p.Ser651Asn, near the
   Ca2+-binding/scrambling transmembrane region)
│ leads to
2. Altered ANO3/TMEM16C protein — an ER-associated, Ca2+-dependent phospholipid
   scramblase/ion channel — with attenuated Ca2+-dependent activation
   (dominant-negative/gain-of-function; LoF is tolerated)
│ results in
3. Dysregulated intracellular (endoplasmic-reticulum) Ca2+ signaling and impaired
   Ca2+-dependent scramblase activity (shown in patient fibroblasts and
   heterologous expression)
│ leads to  ──────────────┬──────────────────────────────────┐
4a. Altered neuronal excitability │ 4b. (inferred) Perturbed ER membrane lipid
    in striatal neurons, where    │     homeostasis / Ca2+ store regulation
    ANO3 is most highly expressed │
│ contributes to          │
5. Dysfunction of basal-ganglia sensorimotor and cerebello-thalamo-cortical
   networks — loss of inhibition and maladaptive sensorimotor plasticity (inferred
   from general dystonia pathophysiology)
│ results in
6. Tremulous craniocervical (or, in severe variants, generalized/paroxysmal)
   dystonia — the clinical manifestation

Molecular detail. ANO3 (TMEM16C) is an "intracellular" anoctamin localized to ER membranes that operates as a Ca²⁺-dependent phospholipid scramblase (PMID: 38657371: "these so-called intracellular anoctamins are also found in the plasma membrane"; PMID: 23532839 demonstrated TMEM16C scramblase activity). Charlesworth et al. (2012) showed patient fibroblasts have abnormal ER-dependent Ca²⁺ signaling (PMID: 23200863).

Ousingsawat et al. (2024) linked the variants mechanistically: "ANO3 variants may dysregulate intracellular Ca2+ signalling, as variants in other Ca2+ regulating proteins like hippocalcin were also identified as a cause of dystonia" (PMID: 38079528); their 2025 electrophysiology study found dystonia variants cause attenuated Ca²⁺-dependent activation (PMID: 39773217). TMEM16C also facilitates Na⁺-activated K⁺ (Slack/KCNT1) currents in sensory neurons, modulating excitability: "TMEM16C modulated the single-channel activity of Slack channels and increased its sodium sensitivity" (PMID: 23872594).

Network-level pathophysiology. Morgante & Klein (2013) note that dystonia "is specifically characterized by maladaptive plasticity in the sensorimotor cortex and loss of cortical surround inhibition" (PMID: 24092288), implicating basal-ganglia and cerebello-thalamo-cortical circuits.

Striatal expression. Cameron et al. (2026) found that, across human brain RNA-seq datasets, dystonia genes are enriched in striatum, cortex, hippocampus, amygdala, and substantia nigra, predominantly in neurons; specifically "ADCY5, GNAL, ANO3 (highest expression in striatum)" (PMID: 41400152).

Suggested ontology terms: - GO (biological process): calcium ion transport (GO:0006816); phospholipid scrambling (GO:0017121); regulation of membrane potential (GO:0042391). - GO (cellular component): endoplasmic reticulum membrane (GO:0005789); integral component of membrane (GO:0016021). - CL (cell types): medium spiny neuron (CL:1001474); GABAergic neuron (CL:0000617); glutamatergic neuron (CL:0000679); dopaminergic neuron (CL:0000700). - CHEBI: calcium(2+) (CHEBI:29108); phosphatidylserine (CHEBI:18303).

7. Anatomical Structures Affected

Organ / system level. DYT24 is a disorder of the nervous system, specifically central motor-control circuitry. There is no primary organ damage; brain MRI is typically normal/unremarkable (PMID: 38079528). The functional lesion centers on the striatum/basal ganglia (UBERON:0002435 striatum; UBERON:0002420 basal ganglion) and associated cerebello-thalamo-cortical networks.

Tissue / cell level. The affected cells are striatal neurons, where ANO3 is most highly expressed (PMID: 41400152). Dystonia genes are predominantly expressed in glutamatergic, GABAergic, and dopaminergic neurons. Suggested CL terms: medium spiny neuron (CL:1001474), GABAergic neuron (CL:0000617).

Subcellular level. The key compartment is the endoplasmic reticulum membrane (GO:0005789), where ANO3 scramblase/Ca²⁺-regulatory activity operates, with downstream effects on plasma-membrane ion channels (Slack/KCNT1).

Clinical localization / lateralization. Dystonia typically affects craniocervical regions (neck, larynx) and may be bilateral or asymmetric; limb tremor can be asymmetric. UBERON: neck (UBERON:0000974), larynx (UBERON:0001737).

8. Temporal Development

Onset. Highly variable: "The onset of clinical features may vary from the first months of life to adulthood" (PMID: 41441972); classic series report early childhood to the forties (PMID: 24442708). Onset pattern is generally insidious/chronic; paroxysmal (episodic) onset is described in rare infantile cases.

Progression. Most cases are stable or slowly progressive; some pediatric generalized forms are progressive (PMID: 38079528). Dystonia can spread from focal to segmental/generalized distribution in a minority. Disease is chronic and lifelong, non-degenerative.

Patterns. No spontaneous remission is characteristic; symptomatic treatment (BoNT, DBS) induces improvement but not cure. Critical period: early symptomatic treatment to limit disability; younger age at onset / variants near the scrambling domain predict more severe disease (PMID: 38284143).

9. Inheritance and Population

Inheritance. Autosomal dominant with reduced, age-dependent penetrance and highly variable expressivity. Lohmann & Klein (2013): "The genetic contribution to dystonia represents a continuum ranging from genetic susceptibility factors of small effect to causative genes with markedly reduced penetrance to those with full penetrance" (PMID: 23893446). Zorzi (2018) places ANO3 among AD pediatric-onset isolated-dystonia genes with low penetrance: "The recently discovered genes (GNAL, ANO-3, KTM2B)..." (PMID: 29396174). Intrafamilial variability is well documented—e.g., 16 affected members of an Indian family with a novel variant showing wide phenotypic heterogeneity (PMID: 41996745). No repeat expansion, so genetic anticipation does not apply. No founder population is established, though recurrent variants (p.Glu510Lys, p.Ser651Asn) occur across European, Chinese, Indian, and Turkish cohorts.

Epidemiology. No validated ANO3-specific prevalence exists. DYT24 is a rare single-gene cause within isolated dystonia (US period prevalence of isolated dystonia 50.2/100,000, 2020–2023; annual incidence 31.8–41.5/100,000; 68.4% female; focal most common at 73%) (PMID: 42845092). ANO3 is uncommon even among adult-onset cervical dystonia: "The recently discovered genes ANO3, GNAL and CIZ1 appear not to be a common cause of adult-onset cervical dystonia" (PMID: 24978640). In gene-panel/exome cohorts ANO3 is a rare yield (e.g., THAP1 most common in an Asian Indian cohort; ANO3 among rarer, PMID: 39749944).

Sex ratio. Female predominance. In the MDSGene database (n=1377), "female participants outnumbered male participants for some genes (GNAL, GCH1, and ANO3) but not for other genes (THAP1, TH, and TOR1A)" (PMID: 38778444).

10. Diagnostics

Diagnosis is clinical + molecular. There is no specific laboratory biomarker and brain MRI is typically normal (PMID: 38079528). Diagnosis rests on phenomenology (tremulous craniocervical dystonia) plus molecular confirmation of an ANO3 variant.

Genetic testing approach. ANO3 is a standard component of dystonia/movement-disorder NGS gene panels. Targeted 127-gene panels yield pathogenic variants in ~22% of selected inherited cases ("probable pathogenic variants were identified in 83 cases (22.0%)", PMID: 29913018). Whole-exome sequencing increases yield after negative panels, especially in complex/early-onset dystonia: "Diagnostic yield was higher in complex dystonia compared to non-complex dystonia (66.7%–5.9%; p < 0.002), especially in patients showing intellectual disability" (PMID: 32334381); exome outperforms panels for complex phenotypes (PMID: 40470849).

Supportive electrophysiology (characterizing, not diagnostic). Tremor recordings, EMG showing co-contraction of antagonist muscles, back-averaged EEG, and C-reflex testing can characterize tremor/myoclonus (PMID: 24442708).

Differential diagnosis. Essential tremor (tremor-only presentations are frequently misdiagnosed as ET, PMID: 24442708); other monogenic dystonias (DYT1/TOR1A, DYT6/THAP1, DYT25/GNAL, KMT2B, dopa-responsive dystonia/GCH1). Chromosomal microarray, karyotyping, FISH, mitochondrial DNA testing, and repeat-expansion testing are not relevant to ANO3 diagnosis (missense point variants).

11. Outcome / Prognosis

Survival / mortality. DYT24 is non-degenerative and non-fatal; no reduction in life expectancy is reported. Brain MRI is normal (PMID: 38079528). Severe pediatric dyskinetic-encephalopathy cases carry higher morbidity.

Morbidity / function / QoL. Disability is driven by motor symptoms plus pain and non-motor burden. Cervical dystonia produces "a myriad of non-motor symptoms including pain, fatigue, sleep disorders and anxiety and depression" (PMID: 33099684).

Treatment-modified prognosis. GPi-DBS improves outcomes long-term: "GPI-DBS significantly improved overall TWSTRS scores by 57% from baseline to 5Y FU", with severity/disability/pain sub-scores improved 72%/59%/46% (PMID: 37542824). Botulinum toxin combined with physiotherapy outperforms BoNT alone for disability, pain, depression, and QoL (CDIP-58) (PMID: 41483253).

Prognostic factors. Younger age at onset and variants near the scrambling domain predict more severe disease (PMID: 38284143). No molecular prognostic biomarkers are validated.

12. Treatment

Management is symptomatic; no disease-modifying or gene-directed therapy exists.

Pharmacogenomics, gene therapy, cell therapy, RNA-based or immunotherapies: none established for DYT24 — not available / not applicable at present. No approved targeted therapy. DBS response in ANO3 ranges from mild to marked across reports.

13. Prevention

No primary prevention exists — DYT24 is a dominantly inherited monogenic disorder with no modifiable environmental cause. Prevention is limited to:

• Genetic counseling conveying autosomal dominant 50% transmission risk with reduced penetrance and highly variable expressivity — an inherited variant does not guarantee disease nor predict severity.
• Cascade / predictive testing of at-risk relatives once a familial pathogenic ANO3 variant is identified.
• Reproductive options: prenatal diagnosis and preimplantation genetic testing.
• NGS-based diagnosis is emphasized to "offer precise genetic counseling to families, and prevent recurrence in the family" (PMID: 40302693).
• Tertiary prevention = early symptomatic treatment (BoNT, anticholinergics, physiotherapy, timely DBS) to limit disability (PMID: 29396174).

Immunization, public-health/environmental interventions, and behavioral prevention are not applicable.

14. Other Species / Natural Disease

Taxonomy / orthologs. ANO3/Ano3 orthologs exist in mouse (NCBI Taxon 10090) and rat (NCBI Taxon 10116) as Tmem16c. No naturally occurring DYT24-equivalent dominant dystonia is documented in companion animals or wildlife. Veterinary relevance is not established.

Comparative biology. The scramblase/ion-channel function of TMEM16C is evolutionarily conserved. Rodent knockouts model loss-of-function consequences (neuronal hyperexcitability, febrile-seizure susceptibility — see Section 15), which recapitulate TMEM16C's normal physiology but not the dominant human dystonia, consistent with the human disease being missense/dominant-negative rather than LoF.

Transmission. Not applicable (non-infectious, non-zoonotic).

15. Model Organisms

Knockout rat DRG findings: "DRG from TMEM16C knockout rats had diminished Slack expression, broadened action potentials and increased excitability" (PMID: 23872594). Model limitation: existing rodent models are loss-of-function and do not reproduce the dominant, missense-driven dystonia; no knock-in model carrying a human pathogenic ANO3 missense allele with a dystonia phenotype has been reported. Model databases: MGI, RGD.

Mechanistic Model / Interpretation

The weight of evidence (16 confirmed findings; 55 papers reviewed) supports a coherent model of DYT24 as an endoplasmic-reticulum Ca²⁺/phospholipid-scramblase channelopathy of the striatum:

ANO3 missense variant (ER Ca2+-dependent scramblase/channel, missense-constrained)
│ dominant-negative / gain-of-function (LoF is tolerated — gnomAD pLI≈0)
▼
Attenuated Ca2+-dependent activation + dysregulated intracellular (ER) Ca2+ signaling
│
▼
Altered excitability of striatal neurons (ANO3 highest expression in striatum)
│  (inferred) via disturbed Ca2+ stores and modulation of K(Na)/Slack channels
▼
Basal-ganglia & cerebello-thalamo-cortical network dysfunction
(loss of inhibition, maladaptive sensorimotor plasticity — inferred from general dystonia)
▼
Tremulous craniocervical dystonia  ──► (severe variants) generalized / paroxysmal /
                                  dyskinetic-encephalopathy phenotypes

Upstream vs downstream: The upstream lesion is the missense variant and its effect on ER Ca²⁺/scramblase function; the downstream manifestation is network-level motor dyscontrol. A crucial interpretive point is the genetic-constraint/functional convergence: gnomAD shows LoF is tolerated (pLI ≈ 0) while missense is constrained (Z = 3.66), and the only reported nonsense allele is a VUS—together strongly arguing that haploinsufficiency is not the mechanism and that pathogenic missense variants act via dominant-negative or gain-of-function. This also explains why rodent Ano3 knockouts (LoF) model hyperexcitability/febrile seizures rather than dominant dystonia.

Genotype–phenotype correlation: Variants near the scrambling domain and younger onset predict more severe, often generalized disease, consistent with a graded effect on scramblase/Ca²⁺ function.

Evidence Base

Limitations and Knowledge Gaps

1. No ANO3-specific epidemiology. Prevalence/incidence of DYT24 specifically is undefined; only the parent class (isolated dystonia, ~50/100,000) is quantified.
2. Mechanism partially inferred. The step from striatal neuronal Ca²⁺/excitability changes to network-level dystonia is inferred from general dystonia pathophysiology, not directly demonstrated for ANO3.
3. No faithful dominant animal model. Existing rodent models are loss-of-function (hyperexcitability, febrile seizures) and do not reproduce dominant dystonia; no knock-in missense model with a dystonia phenotype is published.
4. Large VUS burden. 590 of 772 ClinVar ANO3 records are VUS; functional assays (scramblase/Ca²⁺ activation) are not yet standardized for clinical classification.
5. Penetrance/expressivity unquantified. Reduced, age-dependent penetrance is described qualitatively; no numeric penetrance estimates exist.
6. Treatment evidence is low-level. DBS and pharmacotherapy data for ANO3 are case reports/small series; no controlled trials specific to DYT24.
7. No prognostic biomarkers and no genotype-stratified outcome data beyond the "scrambling-domain = more severe" observation.

Proposed Follow-up Experiments / Actions

1. Generate a knock-in mouse carrying a recurrent human pathogenic missense allele (e.g., p.Glu510Lys or p.Ser651Asn) to test whether dominant-negative/GoF variants produce a dystonic phenotype and striatal circuit dysfunction — the key missing model.
2. Standardize a functional assay (Ca²⁺-dependent scramblase activation / ER Ca²⁺ signaling) to reclassify the 590 ANO3 VUS and establish ACMG PS3/BS3 evidence.
3. Striatal circuit physiology: slice electrophysiology and in vivo recordings in patient iPSC-derived striatal neurons/organoids to test predicted excitability changes and link ANO3 variants to K(Na)/Slack modulation.
4. Genotype–phenotype registry: assemble a multicenter ANO3 cohort to quantify penetrance, age-of-onset distribution, and domain-specific severity, and to derive ANO3-specific prevalence.
5. Prospective DBS/BoNT outcome study restricted to genetically confirmed DYT-ANO3 to move beyond case reports.
6. Deep single-cell profiling of human striatum to confirm the specific cell types (medium spiny neuron vs interneuron) most dependent on ANO3.

Report compiled from 16 confirmed findings and 55 reviewed papers over 5 investigative iterations. Evidence types: human clinical (case series, cohorts, registries), in vitro/cellular (fibroblasts, heterologous expression), model organism (rodent knockouts), and computational (gnomAD constraint, ClinVar aggregation, brain RNA-seq).

Artifacts

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Term Validation

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Terms the report names something else

These identifiers resolve, so nothing about them looks wrong, and the ontology calls them something unrelated to what the report calls them. That usually means the identifier is not the one the sentence needs:

• MONDO:0014019 (2 mentions) - the report calls it "MONDO"; MONDO calls it dystonia 24
• HP:0032122 (1 mention) - the report calls it "Paroxysmal dystonia"; HP calls it Very low visual acuity
• NCIT:C66099 (1 mention) - the report calls it "Trihexyphenidyl"; NCIT calls it Mertiatide
• NCIT:C1005 (1 mention) - the report calls it "Botulinum Toxin"; NCIT calls it Arsenic Trioxide
• NCIT:C38013 (1 mention) - the report calls it "Deep Brain Stimulation"; NCIT calls it Range
• NCIT:C15682 (1 mention) - the report calls it "Physical Therapy"; NCIT calls it Dose-Rate

Obsolete terms

These terms are real but deprecated. Citing one is not a fabrication; it does mean the report is naming something the ontology has retired:

• GO:0016021 (GO_0016021) (1 mention) - replaced by GO:0016020