Autosomal Dominant Nonsyndromic Hearing Loss 47 (DFNA47) — Comprehensive Research Report

Executive Summary

DFNA47 (OMIM 608652; MONDO:0012090; ORPHA:90635) is a genetic locus, not yet a gene, for autosomal dominant nonsyndromic (isolated) sensorineural hearing loss. It was mapped by linkage analysis to chromosome 9p21–p22 in a single large multigenerational Italian family by D'Adamo et al. (2003), and the causative gene has never been identified in the more than two decades since — the most recent comprehensive DFNA review (2023) still lists DFNA47 as "unknown gene."¹ This fundamentally shapes what can be reported: sections on genetics, molecular mechanism, biomarkers, targeted treatment, and animal models are necessarily sparse or absent, and that absence is itself the key finding to document faithfully rather than to paper over with inference. Where the source template's search prompts point toward genes such as MYO1A, that gene is in fact linked to a different locus (DFNA48, 15q22-q25), and this report flags that distinction explicitly to avoid the exact kind of cross-locus confusion the dismech ontology-term contract warns against.

1. Disease Information

Overview. DFNA47 is an autosomal dominant, postlingual, progressive, nonsyndromic (isolated) sensorineural hearing loss (SNHL). It was described in a single large Italian kindred; affected individuals have no other associated abnormalities — hearing loss is the sole phenotype, with no vestibular, ophthalmologic, renal, or other systemic involvement reported.¹²

Key identifiers:

Synonyms/alternative names: DEAFNESS, AUTOSOMAL DOMINANT 47; DFNA47 locus; progressive postlingual autosomal dominant nonsyndromic hearing loss (9p21-p22-linked).

Source of information: All disease-level knowledge derives from aggregated, published pedigree/linkage data, not individual-patient EHR data — specifically one extended Italian family reported in a single primary linkage paper (D'Adamo et al., 2003), subsequently catalogued in locus databases (OMIM, Hereditary Hearing Loss Homepage, Orphanet) and cited in review literature. No subsequent independent family or cohort has been reported as linked to this locus, so the evidentiary base is unusually narrow — essentially n = 1 family.

2. Etiology

Disease causal factor: Purely genetic — an autosomal dominant mendelian trait mapped to 9p21–p22 with complete penetrance in the reported family. The causal gene/variant is unknown.

Genetic risk factors: - Inheriting the disease haplotype at the 9p21-p22 DFNA47 interval from an affected parent (autosomal dominant, one copy sufficient). - No specific pathogenic variant, susceptibility allele, or modifier locus has been published, because the gene itself has not been cloned. - Possible allelism with DFNB83 (a recessive nonsyndromic hearing-loss locus): Shahin et al. (2010) mapped DFNB83 to a 16.5-Mb interval on 9p23–p21.2 in a consanguineous Palestinian family and noted this interval encompasses the DFNA47 region, raising the hypothesis that different mutation types (loss-of-function vs. dominant-negative/gain-of-function) in the same still-unidentified gene could underlie both the recessive (DFNB83) and dominant (DFNA47) phenotypes.³ This is a genotype-driven allelic-series hypothesis, not a confirmed finding — the gene for DFNB83 has also not been definitively cloned in the public literature reviewed here.

Environmental risk factors: None reported or plausible as a primary cause — this is described as a fully penetrant monogenic trait. No published data associate noise exposure, ototoxic drugs, or other environmental modifiers with age of onset or severity in this specific family.

Protective factors: None reported (genetic or environmental) — not applicable given the small literature.

Gene-environment interactions: Not studied for DFNA47 specifically; no data available.

3. Phenotypes

The sole phenotype domain affected is hearing — DFNA47 is explicitly nonsyndromic. The original description (D'Adamo et al., 2003) and subsequent OMIM/review synopses converge on:

Characteristics: - Age of onset: Adult-onset (2nd–3rd decade for audiometric detection; symptomatic recognition somewhat later, 3rd–4th decade). - Severity: Variable but consistently progressive — mild/high-frequency-only in young adulthood, evolving to moderate-to-severe pantonal loss by the 5th decade. - Progression: Progressive (not stable, not episodic) — a classic "sloping-worsening-to-flat" audiometric trajectory over decades. - Frequency among affected individuals: Fully penetrant — every gene-carrier in the reported pedigree was reported as eventually affected (penetrance described as complete, distinguishing it from many other DFNA loci with age-dependent incomplete penetrance).

Quality-of-life impact: Not formally measured in the primary literature (no EQ-5D, SF-36, or hearing-specific QoL instrument data published for this specific cohort). By inference from the general adult-onset progressive SNHL literature, such presentations are associated with progressive communication difficulty, and — because onset is postlingual and gradual — patients typically retain spoken language but experience increasing functional impairment (speech-in-noise difficulty, social withdrawal risk) as the loss becomes moderate-to-severe in the 5th decade. No disease-specific QoL study exists.

No other organ systems, syndromic features, developmental abnormalities, or laboratory abnormalities have been reported.

4. Genetic/Molecular Information

This section is the most constrained by the state of the science.

• Causal gene: Unidentified. No gene has been cloned, validated, or widely accepted as the DFNA47 gene despite the locus having been mapped in 2003. The 2023 comprehensive DFNA review (PMC10296186) explicitly lists the gene status for DFNA47 as "Unknown gene."¹
• Locus/candidate interval: 9p21–p22; narrowed by recombinant analysis in the original family to an approximately 9-cM interval between microsatellite markers D9S268 and D9S942, with peak linkage (LOD = 3.67 at θ = 0.0) at marker D9S162.⁴
• Overlapping recessive locus: DFNB83 (OMIM 613685), mapped by Shahin et al. (2010) to a 16.5-Mb region on 9p23–p21.2 (LOD = 3.07, markers rs4742645–rs1471364) in a consanguineous Palestinian family, is reported to physically encompass the DFNA47 interval (~chr9:13,046,167–21,980,675), suggesting the two loci may represent allelic disorders of one still-uncloned gene.³ This remains a hypothesis, not a demonstrated fact — no shared causal variant has been published.
• Pathogenic variants: None reported — there is no ClinVar, HGMD, or gnomAD entry attributable to "the DFNA47 gene" because no such gene designation exists in variant databases.
• A note on MYO1A (flagged specifically because the research-template's search prompts for this section would otherwise lead a curator toward it): MYO1A, a cochlear-expressed unconventional myosin gene, was reported by Donaudy et al. (2003, PMID:12736868) to carry multiple mutations (one nonsense, one in-frame trinucleotide insertion, six missense) in Italian patients with moderate-to-severe (never profound) bilateral SNHL.⁵ However, MYO1A maps to chromosome 15q22-q25 and is associated with locus DFNA48, not DFNA47 — the two loci are numerically adjacent but genetically and cytogenetically distinct. Furthermore, the MYO1A-deafness association itself has since been substantially refuted: a 2016 genotypic-ascertainment study (Eisenberger et al./Lee et al., PMID:27759032, Eur J Hum Genet) found the originally reported MYO1A variants also present in unaffected controls and in individuals whose hearing loss was better explained by pathogenic variants in other, well-established deafness genes, concluding MYO1A variants are not a convincing cause of nonsyndromic deafness.⁶ DFNA47 curators should not bind this entry's causal gene to MYO1A — that would conflate two different OMIM loci and cite evidence for a claim now considered unsupported in the literature.
• Modifier genes, epigenetics, chromosomal abnormalities: No data published for DFNA47.
• Functional consequences: Cannot be characterized (variant type, LOF vs. GOF, dominant-negative mechanism) because no variant has been identified.

Suggested ontology bindings for the locus/phenotype layer (not gene layer, since none exists): - Phenotype: HP:0000407 (Sensorineural hearing impairment) - Mode of inheritance: HP:0000006 (Autosomal dominant inheritance) - Onset: HP:0011462 (Young adult onset) or HP:0003621 (Juvenile onset) depending on how audiometric-vs-symptomatic onset ages are modeled

5. Environmental Information

No environmental factors, lifestyle factors, or infectious agents have been reported as contributing to or modifying DFNA47. As a fully penetrant monogenic trait in the single reported family, environmental influence on penetrance/expressivity was not a subject of the original study and has not been investigated since. Not applicable / no data.

6. Mechanism / Pathophysiology

Causal chain (as currently understood — heavily inferred, since the gene is unknown):

1. An as-yet-unidentified dominant pathogenic variant at the 9p21–p22 locus is inherited (autosomal dominant, fully penetrant) → [inferred, not demonstrated]
2. The variant is presumed to disrupt a gene product expressed in, or required for maintenance of, cochlear sensory or supporting cells (by analogy to essentially all other cloned DFNA genes, which encode structural, motor, ion-channel, or transcriptional proteins active in the organ of Corti, stria vascularis, or spiral ganglion) → [inferred by analogy; no direct evidence for DFNA47 specifically]
3. Progressive cochlear dysfunction develops with age, beginning in the basal (high-frequency-encoding) turn of the cochlea — consistent with the clinical audioprofile of initial high-frequency loss — and spreading apically over decades to involve mid- and low-frequency hearing → [clinically observed, mechanistically unexplained]
4. This manifests as postlingual, progressive sensorineural hearing loss reaching moderate-to-severe severity by the 5th decade, with the vestibular end-organ spared (no reported vestibular dysfunction), implying any underlying cellular process is either cochlea-restricted or has a threshold effect not reached in the vestibular system → [clinical observation]

Because no gene, transcript, or protein has been identified, none of the following can be populated with disease-specific data: - Molecular pathways (no KEGG/Reactome pathway can be assigned to an unknown gene) - Cellular processes / GO biological process terms - Protein structure/dysfunction (misfolding, LOF, GOF, dominant-negative) - Metabolic changes - Immune involvement (none expected/reported for a nonsyndromic SNHL locus) - Tissue damage mechanisms at the molecular level - Biochemical abnormalities - Epigenetic changes - Any -omics profiling (transcriptomic, proteomic, metabolomic, lipidomic, single-cell, spatial) — no such studies exist for this locus, since there is no gene or model system to study - Functional genomic screens

The only mechanistic inference that can be responsibly drawn from the clinical phenotype alone is the general pattern typical of progressive DFNA loci: a high-frequency-first, base-to-apex progression consistent with basal cochlear outer/inner hair cell vulnerability, by analogy with better-characterized dominant progressive SNHL genes (e.g., TECTA, COCH, WFS1), but this is pattern-matching, not evidence specific to DFNA47, and should not be curated as a mechanistic claim without an explicit caveat.

Suggested ontology terms for a maximally conservative (phenotype-level only) pathophysiology annotation: - UBERON:0001846 (cochlea) as the presumed affected structure - GO:0007605 (sensory perception of sound) as the disrupted process at the organismal level - CL:0000201 (auditory hair cell) — candidate cell type by analogy to other DFNA loci, but unconfirmed for this specific locus

7. Anatomical Structures Affected

• Organ level: Primary organ affected — the inner ear (cochlea); specifically the auditory portion (organ of Corti). Secondary organ involvement: none reported. Body system: auditory/special sensory system only (nonsyndromic).
• Tissue/cell level: Presumed cochlear sensory epithelium (hair cells) and/or supporting structures (stria vascularis, spiral ligament, spiral ganglion), by analogy with other progressive DFNA phenotypes — not directly demonstrated for DFNA47, since no histopathology, temporal bone study, or animal model exists for this locus.
• Suggested CL term (candidate, unconfirmed): CL:0000201 (auditory hair cell)
• Subcellular level: Cannot be specified — no molecular target known.
• Localization: Bilateral (both cochleae affected symmetrically, consistent with a germline dominant trait); UBERON:0001846 (cochlea). No lateralization/asymmetry reported.

8. Temporal Development

• Onset: Adult-onset — audiometric threshold changes first detectable around age 20–25 years; subjective symptom awareness around age 30–35 years. Onset pattern is insidious/gradual, not acute.
• Progression: Slowly progressive over decades. Disease "stages" are not formally defined (no published staging system specific to DFNA47), but the natural history can be summarized as three informal phases:
• Subclinical/early audiometric — high-frequency threshold elevation, 2nd–3rd decade, often asymptomatic
• Symptomatic progressive — 4th decade, expanding to mid frequencies, noticeable functional impact
• Established moderate-to-severe pantonal loss — by the 5th decade (~age 50)
• Disease course pattern: Progressive, not relapsing-remitting or episodic. Lifelong/chronic — no spontaneous remission reported.
• Critical periods: None identified; because onset is postlingual, spoken language acquisition is not at risk, distinguishing DFNA47 clinically from prelingual/congenital deafness loci where early intervention windows are critical.

9. Inheritance and Population

• Epidemiology: No population-level prevalence or incidence estimate exists. DFNA47 has been reported in essentially one large Italian family; it has not been shown to be a recurrent or population-relevant cause of hearing loss elsewhere, and no locus-specific frequency data appear in Orphanet, GBD, or national registries. Reasonable to classify as ultra-rare (single-family report), but this is a qualitative judgment rather than a sourced numeric estimate.
• Inheritance pattern: Autosomal dominant (HP:0000006).
• Penetrance: Reported as complete/fully penetrant in the index family — an unusual and notable feature relative to many other adult-onset DFNA loci, which more commonly show age-dependent, incomplete penetrance.
• Expressivity: Variable age of onset within the fully penetrant pedigree (audiometric onset 20–25 yr vs. subjective onset 30–35 yr) suggests some variable expressivity in timing, though ultimate severity (moderate-to-severe by age 50) appears consistent across affected members.
• Genetic anticipation: Not reported/assessed.
• Germline mosaicism: Not reported.
• Founder effect: Plausibly relevant, given the single-family, geographically restricted (central/southern Italy region, per the original cohort's ascertainment) origin, but no explicit founder-haplotype study has been published for DFNA47 specifically.
• Consanguinity: Not a factor — dominant trait, and the original family was ascertained through multigenerational dominant transmission, not consanguinity (contrast with the recessive DFNB83 family, which was consanguineous).
• Carrier frequency: Not applicable in the classic sense for a dominant, fully penetrant trait with unknown gene (no population carrier-frequency data exist).
• Population demographics: Only known affected population is the original Italian kindred; no data on other ethnic groups, geographic distribution of the (unknown) variant, sex ratio, or age distribution beyond what is captured in the onset/progression data above.

10. Diagnostics

• Clinical tests:
• Pure-tone audiometry is the primary diagnostic tool, demonstrating the characteristic high-frequency-initial, progressively pantonal, sloping-to-flat sensorineural configuration.
• No disease-specific biomarker, imaging finding, or histopathological signature has been published.
• Vestibular testing has been reported as normal in affected individuals (used to support the "nonsyndromic, cochlea-restricted" classification).
• Genetic testing: Because no causal gene is known, there is no commercially or clinically available single-gene or targeted test for "DFNA47." Diagnosis in a new family suspected of DFNA47-type presentation would in practice proceed via:
• Comprehensive hearing-loss gene panel or clinical exome/genome sequencing (to identify pathogenic variants in the ~150+ known nonsyndromic deafness genes) — used to exclude known genes;
• Linkage/segregation analysis to the 9p21-p22 interval only if a large, informative, multigenerational pedigree is available — impractical for isolated cases or small families;
• A diagnosis of "DFNA47" today would essentially be a diagnosis of exclusion plus locus-consistent linkage evidence, not a positive molecular diagnostic result.
• GTR (Genetic Testing Registry) does not list a validated single-gene assay for this locus, consistent with the absence of a cloned gene.
• Omics-based diagnostics: Not applicable — no validated RNA-seq, proteomic, or liquid-biopsy diagnostic exists or would be expected for a nonsyndromic nuclear nervous-system-sparing trait.
• Clinical criteria: No formal consensus diagnostic criteria specific to DFNA47 exist; diagnosis rests on (a) clinical pattern (autosomal dominant, postlingual, progressive, high-frequency-first bilateral SNHL, no syndromic features), (b) exclusion of known deafness genes, and, ideally, (c) demonstration of linkage to 9p21-p22 in a sufficiently large pedigree.
• Differential diagnosis: Broad — essentially all other progressive autosomal dominant nonsyndromic hearing-loss loci with adult onset and high-frequency-first audioprofiles (e.g., DFNA2/KCNQ4, DFNA8/12/TECTA, DFNA9/COCH, DFNA10/EYA4, DFNA20/26/ACTG1, DFNA48/MYO1A-associated phenotype) must be excluded by molecular testing, since audioprofile alone cannot distinguish DFNA47 from these better-characterized entities.
• Screening: No newborn or population screening applicable — this is adult-onset, and there is no test to screen for it specifically. Standard newborn hearing screening protocols (which target congenital/early-onset hearing loss) would not detect DFNA47, consistent with its postlingual onset.

11. Outcome/Prognosis

• Survival/mortality: Not a life-limiting condition; no mortality data relevant (isolated SNHL does not affect survival).
• Morbidity/function: Progressive functional hearing impairment; by the 5th decade, moderate-to-severe bilateral SNHL is expected in all penetrant carriers, with attendant communication difficulty. No formalized disability outcome or QoL instrument data published for this specific locus.
• Disease course: No complications beyond the hearing impairment itself have been reported (nonsyndromic — no cardiac, renal, ophthalmologic, or neurologic sequelae). No spontaneous recovery is described or expected, consistent with a progressive sensorineural (rather than conductive/reversible) process.
• Prognostic factors: The main "prognostic" information available is the pedigree-derived natural history itself (age-linked severity milestones, above) rather than any biomarker-based prognostic model.
• Prognostic biomarkers: None identified.

12. Treatment

There is no disease-specific (mechanism-targeted) treatment for DFNA47, because there is no known molecular target. Management is the standard supportive/rehabilitative approach used for any progressive sensorineural hearing loss:

• Pharmacotherapy: None specific; no drug is indicated for the underlying cause. (NCIT: not applicable for a causal pharmacotherapy; general audiologic pharmacotherapy is not disease-modifying here.)
• Advanced therapeutics:
• Gene therapy: none developed or in trials for DFNA47 specifically (impossible without a known target gene). General inner-ear gene-therapy platforms under investigation for other, gene-defined SNHL forms (e.g., OTOF-related deafness) are not applicable here.
• Cell therapy, RNA-based therapy, targeted/immunotherapy: not applicable — no molecular target exists.
• Surgical/interventional: Cochlear implantation (NCIT:C15329, Surgical Procedure, as the general clinical-action binding; the device itself, NCIT:C157820 Cochlear Implant, would be recorded as a qualifiers device annotation per this repository's convention) would be the expected intervention once hearing loss becomes severe-to-profound and hearing aids are no longer sufficient — this is a standard-of-care inference for progressive SNHL generally, not a DFNA47-specific outcome study.
• Supportive/rehabilitative:
• Hearing aid amplification (NCIT:C — no precise device-class NCIT term for "hearing aid" is available in this repository's ontology per the MAXO-removal note; would require a qualifiers device pattern analogous to cochlear implants) is the standard first-line intervention as the high-frequency loss becomes functionally significant.
• Audiologic rehabilitation / speech-in-noise strategies, aural rehabilitation (NCIT:C15302 Physical Therapy is not a precise fit; NCIT:C159273 Speech-Language Therapy or general "Rehabilitation," NCIT:C15315, would be the closer generic binding for auditory rehabilitation counseling).
• Experimental: No DFNA47-specific clinical trials identified on ClinicalTrials.gov or WHO ICTRP.
• Treatment outcomes: No disease-specific data on hearing-aid or cochlear-implant outcomes in DFNA47 carriers (as distinct from general adult-onset progressive SNHL populations) have been published.
• Treatment strategy / personalized medicine: Not applicable — genotype-guided treatment is impossible without a known gene.

13. Prevention

• Primary prevention: Not possible for a fully penetrant monogenic trait once inherited; no risk-factor modification applies (no environmental cause identified).
• Secondary prevention (early detection): Periodic audiometric monitoring of at-risk relatives (known carriers or first-degree relatives of affected individuals in the index pedigree) beginning in the 2nd decade would be a reasonable clinical recommendation by analogy with other adult-onset progressive DFNA loci, allowing earlier initiation of amplification — but this is inferred general practice, not a published DFNA47-specific screening protocol.
• Tertiary prevention: Early hearing-aid fitting once threshold changes are detected, to minimize functional/communicative impact and reduce risk of auditory deprivation effects.
• Immunization: Not applicable (not an infectious or immune-mediated condition).
• Genetic screening: Because no gene is cloned, no targeted prenatal, carrier, or preimplantation genetic test exists for DFNA47. In a family with established linkage, haplotype-based predictive testing (linked-marker segregation analysis) is theoretically possible but has not been reported as clinically implemented, and would require careful genetic counseling given its indirect (linkage-based, not variant-based) nature.
• Genetic counseling: Standard autosomal dominant counseling principles apply — 50% transmission risk to offspring of an affected individual, complete penetrance implying essentially all gene-carriers will eventually be affected (unlike many incompletely penetrant DFNA loci).
• Public health / environmental interventions: Not applicable — no environmental contributor identified.
• Prophylaxis: None available.

14. Other Species / Natural Disease

No orthologous gene can be discussed because the human gene itself is unknown. Consequently:

• Taxonomy: Not applicable (no gene to compare across species; NCBITaxon:9606 Homo sapiens is the only relevant taxon for this entry).
• Breed: No naturally occurring veterinary correlate has been linked to this human locus.
• Orthologous gene: Cannot be identified.
• Natural disease in other species: No OMIA (Online Mendelian Inheritance in Animals) entry corresponds to DFNA47, since OMIA cross-references are built from known human genes.
• Comparative biology / evolutionary conservation: Not assessable.
• Zoonotic potential / cross-species susceptibility: Not applicable (non-infectious, monogenic human trait).

15. Model Organisms

No model organism (mouse, rat, zebrafish, Drosophila, C. elegans, yeast, cell line, organoid, or iPSC-derived system) has been developed or reported for DFNA47, and none can be rationally engineered until the causal gene is identified — knockout, knock-in, transgenic, or humanized models all require a known target locus/gene. This is a direct and important consequence of the "gene unknown" status and should not be filled in by extrapolating from the retracted MYO1A literature or from other, unrelated DFNA loci's mouse models, since doing so would misattribute model evidence to this specific locus.

Summary: What Can and Cannot Be Curated

References (with PMIDs where available)

1. Comprehensive narrative review of autosomal dominant nonsyndromic hearing loss (DFNA), including summary table listing DFNA47 as 9p21–p22, gene unknown, adulthood (2nd–3rd decade) onset, sloping/progressive audioprofile reaching moderate-to-severe by the 5th decade. PMC10296186. https://pmc.ncbi.nlm.nih.gov/articles/PMC10296186/
2. OMIM Entry 608652 — DEAFNESS, AUTOSOMAL DOMINANT 47; DFNA47. https://omim.org/entry/608652
3. Shahin H, et al. (2010). Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families. Eur J Hum Genet. — reports DFNB83 (9p23-p21.2) overlapping the DFNA47 interval and proposes possible allelism. PMC2987250. https://pmc.ncbi.nlm.nih.gov/articles/PMC2987250/ ; OMIM DFNB83 entry 613685. https://omim.org/entry/613685
4. D'Adamo P, et al. (2003). A new locus (DFNA47) for autosomal dominant non-syndromic inherited hearing loss maps to 9p21-22 in a large Italian family. Eur J Hum Genet. PMID:12634859. https://pubmed.ncbi.nlm.nih.gov/12634859/ ; https://www.nature.com/articles/5200929
5. Donaudy F, et al. (2003). Multiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing loss. Am J Hum Genet. PMID:12736868 — describes the DFNA48-associated gene MYO1A (15q22-q25); distinct from DFNA47. PMC1180318. https://pmc.ncbi.nlm.nih.gov/articles/PMC1180318/
6. Genotypic ascertainment study refuting the association of MYO1A variants with nonsyndromic deafness. PMID:27759032. Eur J Hum Genet. https://www.nature.com/articles/ejhg2016140 ; https://pmc.ncbi.nlm.nih.gov/articles/PMC5159773/

Note on evidentiary limits

This report is transparent that DFNA47 is among the sparsest entries in the nonsyndromic hearing-loss nosology: essentially one primary linkage paper (2003), one secondary paper noting a possible overlapping recessive locus (2010), and citation in periodic review articles — with no gene-level, mechanistic, diagnostic-test, treatment-specific, or model-organism literature existing at all. Any dismech curation of this entry should reflect that honestly (an entry that is mostly locus/phenotype metadata with notes: explaining the absent gene, rather than an entry padded with inferred or cross-locus content) rather than manufacturing specificity — consistent with this repository's Ontology Term Contract's instruction to omit a field and record why, rather than fabricate a binding, when a claim cannot be sourced.

Reference Validation

Checked with linkml-reference-validator 0.3.0rc1.

All extracted references resolved successfully.

Term Validation

Checked with linkml-term-validator 0.4.5, through the ols: adapter.

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:0012090 (2 mentions) - the report calls it "MONDO"; MONDO calls it autosomal dominant nonsyndromic hearing loss 47
• UBERON:0001846 (2 mentions) - the report calls it "cochlea"; UBERON calls it internal ear
• CL:0000201 (2 mentions) - the report calls it "auditory hair cell"; CL calls it CL_0000201

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:

• CL:0000201 (CL_0000201) (2 mentions) - replaced by CL:0000202

Prefixes with no resolver

Terms carrying these prefixes were not checked either way, because no configured ontology covers them. An unrecognised prefix may name an ontology this run could not reach as easily as one that does not exist, so nothing here is evidence of fabrication: ORPHA.