Autosomal Dominant Hearing Loss 78 (DFNA78, SLC12A2-related) — Comprehensive Disease Report

Prepared as a disease knowledge-base entry. Evidence types are flagged as [human clinical], [model organism], [in vitro], or [computational]. Primary citations are given as PMIDs.

Summary / Consensus Answer

DFNA78 is a rare, autosomal dominant, non-syndromic sensorineural hearing loss (frequently accompanied by bilateral vestibular areflexia) caused by heterozygous variants in SLC12A2, the gene encoding the secretory Na⁺-K⁺-2Cl⁻ cotransporter NKCC1. The pathogenic variants cluster in exon 21 (or its 3′ splice site), a region present almost exclusively in the cochlea-specific NKCC1 isoform that is required to maintain the K⁺-rich endolymph and endocochlear potential that drive hair-cell mechanotransduction. Reduced/dysfunctional cotransport disrupts endolymph homeostasis, leading to hair-cell dysfunction and hearing/vestibular loss. Management is supportive (hearing aids, cochlear implantation, vestibular rehabilitation); no disease-specific pharmacotherapy exists.

1. Disease Information

Overview. DFNA78 ("Deafness, autosomal dominant 78") is a Mendelian sensorineural hearing loss (SNHL) caused by heterozygous SLC12A2 variants. It was first delineated in 2020 [human clinical; PMID 32294086; 32658972]. The phenotype is congenital-to-early-onset, bilateral SNHL, often severe-to-profound, and frequently with bilateral vestibular areflexia (hence sometimes described as a cochleovestibular defect) [PMID 32658972; 40503591].

"In 2020, heterozygous variants in SLC12A2 were identified as a cause of non-syndromic deafness associated with vestibular areflexia (DFNA78; MIM 619081)." — PMID 40503591

Key identifiers (verified via OLS4/MONDO, 2026-09-03). - OMIM: #619081 (Deafness, autosomal dominant 78) - Gene OMIM: SLC12A2 600840 - MONDO: MONDO:0033665 ("hearing loss, autosomal dominant 78") - DOID: DOID:0112159; GARD: 0018156; MedGen: C5436768 (CUI 1777362); UMLS: C5436768 - Orphanet: No dedicated DFNA78 ORPHAcode (MONDO records no Orphanet xref); clinically grouped under autosomal dominant non-syndromic sensorineural hearing loss. - ICD-11: AB52 Sensorineural hearing impairment (bilateral, AB52.0); ICD-10: H90.3/H90.5 - MeSH: "Hearing Loss, Sensorineural" (D006319); "Hearing Loss, Bilateral" - HGNC gene: HGNC:10911 (SLC12A2); NCBI Gene: 6558; Ensembl: ENSG00000064651; UniProt: P55011 (NKCC1)

Synonyms / alternative names: DFNA78; deafness, autosomal dominant 78; SLC12A2-related autosomal dominant deafness; NKCC1-related hearing loss; non-syndromic sensorineural hearing loss with vestibular areflexia. Distinct allelic disorders (same gene, different phenotype/inheritance): Delpire-McNeill syndrome — neurodevelopmental disorder, MONDO:0033667, OMIM #619083, Orphanet:633024 [PMID 32658972]; Kilquist syndrome — autosomal recessive multisystem disorder, MONDO:0033664, OMIM #619080, Orphanet:633021 [PMID 30740830].

Data source type: Aggregated disease-level knowledge derived from a small number of published case reports/families and functional studies (not EHR-derived at scale). Fewer than ~20 unrelated affected individuals/families are described to date.

2. Etiology

Primary cause — genetic. DFNA78 is a monogenic disorder caused by heterozygous, usually dominantly-inherited or de novo, variants in SLC12A2 [human clinical; PMID 32294086; 32658972]. There is no environmental or infectious cause; environmental agents are irrelevant to the primary etiology.

Genetic risk factors. - Causal variants: missense and splice-site variants restricted to exon 21 / its 3′ splice site of the cochlea-specific NKCC1 isoform [PMID 32294086]. ClinVar additionally lists DFNA78-annotated truncating alleles c.2977G>T (p.Glu993Ter) [Pathogenic] and c.869dup (p.Val291fs) [Likely pathogenic] [computational; ClinVar 2026]. - No known common susceptibility loci or modifier genes have been established for DFNA78 (the disorder is monogenic and ultra-rare).

Environmental risk / protective factors. None established as causal or modifying for DFNA78. General SNHL aggravators (noise, ototoxic aminoglycosides, loop diuretics) are theoretical concerns because loop diuretics (bumetanide/furosemide) inhibit NKCC1; avoidance is prudent but not evidence-based for this specific disease.

Gene–environment interactions. Not characterized. Given the ion-transport mechanism, ototoxic drugs that further impair endolymph homeostasis (loop diuretics, aminoglycosides, cisplatin) could plausibly worsen hearing, but no formal GxE data exist.

3. Phenotypes

Core phenotype = bilateral sensorineural hearing loss ± bilateral vestibular areflexia, non-syndromic.

Explicitly NOT part of DFNA78 (these distinguish it from the recessive/de-novo allelic disorders): intellectual disability, developmental delay, gastrointestinal dysmotility, absent salivation/lacrimation, respiratory abnormalities, microcephaly — these occur in Kilquist syndrome (biallelic LoF) and Delpire-McNeill (de novo NDD) [PMID 30740830; 32658972; 33500540].

Quality-of-life impact. SNHL impairs speech/language acquisition, education, and communication; vestibular areflexia impairs balance, gaze stabilization (oscillopsia), and delays motor development. No DFNA78-specific EQ-5D/SF-36 data; QoL burden inferred from congenital bilateral SNHL literature generally.

4. Genetic / Molecular Information

Causal gene. SLC12A2 (Solute carrier family 12 member 2), encoding NKCC1 (Na⁺-K⁺-2Cl⁻ cotransporter 1). HGNC:10911; NCBI Gene 6558; Ensembl ENSG00000064651; UniProt P55011 (1212 aa); locus 5q23.3 (GRCh38 chr5:128,083,766–128,189,677); canonical transcript ENST00000262461 / NM_001046.3 [computational; gnomAD/UniProt].

Pathogenic variants. - Type/class: predominantly missense and splice-site variants in exon 21 / its 3′ splice acceptor (cochlear isoform) [PMID 32294086]; ClinVar also records truncating (nonsense/frameshift) DFNA78 alleles (p.Glu993Ter; p.Val291fs) [ClinVar]. - Classification (ACMG/AMP): the two established DFNA78 alleles are Pathogenic / Likely pathogenic; most other SLC12A2 variants are VUS [ClinVar 2026]. - Allele frequency: private/ultra-rare; absent or singleton in gnomAD (consistent with de novo or small-family dominant transmission). - Origin: germline — inherited (dominant families) or de novo (sporadic cases) [PMID 32294086; 32658972]. No somatic involvement. - Functional consequence: reduced cotransporter activity — "Cl⁻ influx was significantly decreased in all SLC12A2 variants studied" [in vitro Xenopus oocytes; PMID 32294086]. Because NKCC1 is an obligate dimer and heterozygous LoF carriers have normal hearing, DFNA78 missense alleles likely act via dominant-negative / isoform-specific loss of endolymph-secreting function rather than simple haploinsufficiency (partly inferred) [PMID 40503591].

"SLC12A2 functions as a dimer and has several isoforms; only one isoform contains exon 21, and this isoform is almost exclusively expressed in the inner ear/cochlea." — PMID 40503591

Constraint (gnomAD). LOEUF 0.60, LoF o/e 0.49 (obs 67/exp 136), lof_z 5.04, pLI ≈ 0, missense o/e 0.86 (mis_z 2.32) — i.e., SLC12A2 is only moderately LoF-constrained and not classically haploinsufficient, supporting the non-haploinsufficiency mechanism [computational; gnomAD].

Modifier genes / epigenetics / chromosomal abnormalities. None established for DFNA78. (In Kilquist syndrome the causal lesion was a homozygous 22-kb deletion arising via uniparental isodisomy of chromosome 5 — a large-scale mechanism relevant to the recessive allelic disorder, not DFNA78 [PMID 30740830].)

5. Environmental Information

Not applicable to disease causation. No environmental toxins, lifestyle factors, or infectious agents are implicated in DFNA78. Theoretical aggravators of any SNHL — noise exposure, aminoglycosides, cisplatin, and loop diuretics (NKCC1 inhibitors) — should be minimized as general otoprotective practice, but there is no disease-specific evidence.

6. Mechanism / Pathophysiology

Ordered causal chain (initiating lesion → clinical manifestation):

1. A heterozygous SLC12A2 variant in the cochlea-specific exon-21 region (missense/splice/truncating) alters NKCC1 in the exon-21 (inner-ear) isoform [PMID 32294086].
2. The mutant subunit incorporates into the obligate NKCC1 dimer, and (inferred) exerts a dominant-negative / isoform-specific reduction of cotransport in cochlear secretory epithelium — demonstrated as decreased Cl⁻ influx in vitro [PMID 32294086; dimer/mechanism partly inferred, PMID 40503591].
3. Reduced NKCC1 activity in stria vascularis marginal cells (and other lateral-wall cells) decreases basolateral uptake of Na⁺/K⁺/Cl⁻, which results in reduced K⁺ secretion into the endolymph [model organism; PMID 10369265].
4. Impaired K⁺ secretion leads to failure of endolymph homeostasis and reduction of the endocochlear potential (EP) — the driving force for hair-cell transduction currents [PMID 32294086; 17674100].
5. Loss of the K⁺ gradient/EP results in failure of hair-cell mechano-electrical transduction ("K⁺ transport is required for the mechano-transduction of auditory stimuli") [PMID 40503591].
6. Chronic endolymph disturbance leads to structural damage / collapse of the endolymphatic compartment and hair-cell dysfunction (shown in Slc12a2⁻/⁻ mice) [model organism; PMID 10369265].
7. → Sensorineural hearing loss; in parallel, the same defect in vestibular dark cells of the labyrinth results in vestibular hypofunction/areflexia [PMID 32658972].

Molecular pathways / biochemistry. The core defect is an ion-transport (ion-homeostasis) defect, not a classical signaling cascade. NKCC1 mediates electroneutral, bumetanide-sensitive Na⁺:K⁺:2Cl⁻ symport (MF GO:0008511 sodium:potassium:chloride symporter activity). Relevant GO biological processes (UniProt P55011): potassium ion transmembrane transport (GO:0071805), chloride transmembrane transport (GO:1902476), potassium ion import across plasma membrane (GO:1990573), intracellular potassium ion homeostasis (GO:0030007), cell volume homeostasis (GO:0006884), sensory perception of sound (GO:0007605), inner ear morphogenesis (GO:0042472). CHEBI entities: potassium(1+) CHEBI:29103, chloride CHEBI:17996, sodium(1+) CHEBI:29101; inhibitors bumetanide CHEBI:3213, furosemide CHEBI:47426.

Protein dysfunction. NKCC1 is a 12-TM cation-chloride cotransporter that assembles as a homodimer; cryo-EM structures reveal ion-binding sites and the dimer interface [in vitro/structural; PMID 36239040; 32081947; 37545407]. Exon-21 variants perturb the C-terminal cytoplasmic domain critical for transport/regulation; recessive alleles also cluster in the C-terminal domain [PMID 33500540]. Consequence = loss/reduction of transport function (± dominant-negative on the dimer).

Cell types / processes (upstream→downstream). Upstream: dysfunction of strial marginal cells (CL:0002516) and vestibular dark cells (epithelial K⁺ secretion). Downstream: secondary dysfunction/degeneration of cochlear hair cells (inner CL:0000589; outer CL:0000601), vestibular hair cells (CL:0000633), and (later) spiral ganglion neurons (CL:0002253). No inflammation/autoimmunity, apoptosis-driven primary mechanism, or metabolic disorder is implicated in DFNA78.

Molecular profiling. NKCC1 immunolocalizes to the basolateral membrane of strial marginal cells; in hereditary-deaf animal cochleae, spatiotemporal loss of SLC12A2 accompanies strial malformation and endolymph collapse [PMID 18093167; 24713161]. No DFNA78-specific transcriptomic/proteomic/metabolomic datasets exist.

7. Anatomical Structures Affected

• Organ level (primary): inner ear / cochlea (UBERON:0001846 inner ear; UBERON:0001844 cochlea); vestibular apparatus (semicircular canals UBERON:0001840, otolith organs).
• Body systems: special sense (auditory/vestibular) organ of the nervous/sensory system. No cardiovascular, GI, renal, or respiratory involvement in DFNA78 (unlike the multisystem recessive disorder).
• Tissue/cell level: cochlear lateral wall / stria vascularis (UBERON:0002429) secretory epithelium — strial marginal cells (CL:0002516); organ of Corti (UBERON:0002227) — inner/outer hair cells (CL:0000589 / CL:0000601); vestibular dark cells and vestibular hair cells (CL:0000633); endolymph compartment (UBERON:0011078).
• Subcellular level: basolateral plasma membrane (GO:0016323) of secretory epithelial cells (NKCC1 also at apical membrane GO:0016324 in some epithelia); integral membrane transporter.
• Localization / laterality: bilateral (typically symmetric) cochleovestibular involvement.

8. Temporal Development

• Onset: congenital or early-childhood in most reported cases; some heterozygous families show later-onset/progressive SNHL [PMID 32294086; 32658972]. Pattern is chronic/insidious rather than acute.
• Progression: ranges from stable to slowly progressive; severity moderate-to-profound. Vestibular areflexia is generally stable/non-progressive.
• Course/duration: lifelong, non-remitting. No spontaneous remission; no relapsing-remitting pattern.
• Critical period: early identification (newborn hearing screening) and early amplification/cochlear implantation within the first years of life are the key windows for language outcomes.

9. Inheritance and Population

• Inheritance: Autosomal dominant (DFNA78), including de novo occurrences in sporadic cases [PMID 32294086; 32658972].
• Penetrance: appears high in reported dominant families (5/5 affected members in the index family) but formal penetrance estimates are unavailable given few families; treat as likely high but incompletely quantified.
• Expressivity: variable (severity and presence of vestibular involvement differ across individuals).
• Anticipation / germline mosaicism / founder effects: none reported. Founder alleles not described.
• Carrier frequency: not applicable (dominant); SLC12A2 LoF alleles exist in gnomAD but do not cause DFNA78.
• Epidemiology: ultra-rare; exact prevalence/incidence unknown. DFNA (autosomal dominant non-syndromic) deafness collectively is a minority of hereditary hearing loss; DFNA78 is among the rarer subtypes with <20 reported families/individuals. No prevalence per 100,000 can be reliably stated.
• Demographics: reported across multiple populations (Japanese index families [PMID 32294086]; European/other cohorts [PMID 32658972; 40503591]). No sex predilection expected (autosomal). No specific geographic/ethnic clustering established.

10. Diagnostics

Clinical/functional tests. - Audiometry (pure-tone, ABR/auditory brainstem response, OAE, tympanometry): documents bilateral SNHL; OAEs typically absent. LOINC panels for audiometry. - Vestibular testing: video head-impulse test (vHIT), caloric testing, VEMP, rotational chair — reveal vestibular areflexia/hypofunction. - Imaging: MRI/CT of temporal bones — usually normal inner-ear anatomy (helps exclude structural/EVA causes); no pathognomonic finding. - No blood/urine biomarker exists; diagnosis is not made by chemistry.

Genetic testing (diagnostic gold standard). - Recommended approach: hereditary-hearing-loss gene panel or whole-exome sequencing (WES), with attention to SLC12A2 including exon 21 and splice sites (which may be under-covered/mis-annotated because the pathogenic cochlear isoform differs from the canonical transcript) [PMID 32294086]. WES/WGS with trio analysis is especially useful to detect de novo variants [PMID 32658972]. - Single-gene SLC12A2 testing is appropriate when the phenotype (congenital SNHL + vestibular areflexia, dominant/de novo) is suggestive. - CMA/karyotype/FISH generally not indicated (point-variant disorder); mtDNA and repeat-expansion testing not relevant. - Variant-interpretation caveat: confirm variant is in the exon-21 cochlear isoform and, ideally, functional confirmation (reduced Cl⁻/transport) supports pathogenicity [PMID 32294086].

Clinical criteria / differential diagnosis. No formal diagnostic criteria. Differential includes other non-syndromic SNHL genes (GJB2, SLC26A4/Pendred, MYO7A, TMC1, etc.), and syndromic causes with vestibular involvement (Usher syndrome). The combination of non-syndromic congenital SNHL with bilateral vestibular areflexia and dominant/de novo inheritance points toward SLC12A2. Distinguish from the allelic Kilquist (recessive, multisystem) and Delpire-McNeill (NDD) disorders.

Screening. Detected via universal newborn hearing screening (phenotype), then genetic confirmation; cascade testing of at-risk relatives in dominant families.

11. Outcome / Prognosis

• Survival/mortality: DFNA78 is not life-limiting; normal life expectancy. Mortality not attributable to the disease. (Contrast with severe multisystem Kilquist syndrome.)
• Morbidity/disability: principal morbidity is communication disability from bilateral SNHL and balance impairment/oscillopsia from vestibular areflexia; motor milestone delay possible in infancy.
• Disease course: chronic, lifelong; hearing stable-to-progressive.
• Recovery potential: no spontaneous recovery; functional hearing is recoverable with amplification/cochlear implantation, and balance improves with vestibular rehabilitation/compensation.
• Prognostic factors: degree/onset of hearing loss, timing of intervention (early implantation → better language outcomes), and residual hearing. No molecular prognostic biomarker established.
• QoL measures: no DFNA78-specific instruments; general pediatric SNHL QoL tools apply.

12. Treatment

No disease-modifying/curative pharmacotherapy exists. Management is supportive/rehabilitative.

• Amplification / devices: hearing aids for milder loss; cochlear implantation for severe-to-profound loss (NCIT: Cochlear Implant C99286; Hearing Aid C99285). Cochlear implants bypass the failed endolymph-dependent transduction by directly stimulating the auditory nerve and are expected to be effective (spiral ganglion typically preserved early).
• Vestibular rehabilitation / physical therapy for balance; speech-language therapy and early-intervention/educational support.
• Pharmacotherapy: none specific. Note NKCC1 is the target of loop diuretics (bumetanide CHEBI:3213, furosemide) — these inhibit NKCC1 and are potentially ototoxic, so they are not therapeutic and are best avoided. Bumetanide is being studied in NKCC1-related neurodevelopmental/GABA-polarity contexts [PMID 26955005; 38950809], but this is not applicable to restoring cochlear NKCC1 function in DFNA78.
• Advanced/experimental: No approved gene therapy, ASO, or cell therapy for DFNA78. Given the dominant/likely dominant-negative mechanism, allele-selective silencing (siRNA/ASO) or gene editing are conceptually attractive future strategies but remain preclinical/theoretical. No registered clinical trials (ClinicalTrials.gov) target DFNA78 specifically as of this report.
• Pharmacogenomics: avoid concomitant ototoxic drugs (aminoglycosides, cisplatin, loop diuretics).

13. Prevention

• Primary prevention: not possible (genetic). Genetic counseling for dominant families (50% transmission risk); options include prenatal testing and preimplantation genetic testing (PGT) for known familial variants.
• Secondary prevention / early detection: universal newborn hearing screening enables early diagnosis and intervention; cascade genetic testing of relatives.
• Tertiary prevention: early amplification/cochlear implantation and vestibular rehabilitation to prevent language/developmental sequelae; avoidance of ototoxic exposures and noise to preserve residual hearing.
• Immunization / public-health / environmental measures: not applicable.

14. Other Species / Natural Disease

• Taxonomy / orthologs: Slc12a2 is highly conserved. Mouse Slc12a2 (NCBI Gene 20496; MGI:101924; NCBI Taxon 10090); rat Slc12a2 (Taxon 10116); zebrafish slc12a2 (Taxon 7955). Human ortholog UniProt P55011.
• Natural disease in animals: Deafness/inner-ear dysfunction from Slc12a2 disruption is a model-organism phenomenon (targeted mutants); no well-known spontaneous companion-animal DFNA78 equivalent is catalogued (OMIA lists NKCC1/SLC12A2 biology but no established dominant deafness breed disorder).
• Comparative biology: NKCC1's role in endolymph/K⁺ cycling is conserved across mammals (mouse, gerbil, rat, guinea pig) and underlies the shared deafness phenotype [PMID 10369265; 18093167]. Evolutionary conservation of the endolymph-secretion mechanism is strong.
• Transmission: none (non-infectious, non-zoonotic).

15. Model Organisms

• Mouse — Slc12a2 (NKCC1) knockout [model organism; PMID 10369265]: constitutive KO mice are deaf, display classic shaker/waltzer circling/head-bobbing (vestibular dysfunction), and show collapse of the endolymphatic compartment and strial/inner-ear structural damage from reduced endolymph secretion. This recapitulates the core DFNA78 mechanism (endolymph/EP failure) and the cochleovestibular phenotype.

  "absence of functional co-transporter leads to structural damages in the inner ear consistent with a decrease in endol[ymph]" — PMID 10369265

• Allelic mouse models / EP studies: heterozygous Nkcc1 deletion causes progressive, age-dependent hearing loss with EP decline; combined manipulation with Na,K-ATPase isoforms modulates EP and hearing, underscoring NKCC1's role in EP generation [PMID 17674100].
• Other species: guinea-pig hereditary-deafness models show spatiotemporal loss of strial K⁺-transport proteins including SLC12A2 with endolymph collapse [PMID 18093167].
• Model types available: constitutive knockout; heterozygous; the biology also supports conditional/knock-in and humanized approaches (MGI/IMPC resources for Slc12a2).
• Recapitulation & limitations: KO models faithfully reproduce deafness + vestibular dysfunction + endolymph collapse, but represent complete loss of function/biallelic biology (closer to Kilquist) rather than the human heterozygous, isoform-/exon-21-specific dominant mechanism; a precise DFNA78 exon-21 knock-in would better model the dominant-negative disease. No DFNA78 iPSC/organoid model is yet published.
• Databases: MGI (Slc12a2), IMPC/IMSR, Alliance of Genome Resources, ZFIN (slc12a2), RGD.

Supported vs Refuted Hypotheses

Supported: - DFNA78 is caused by heterozygous SLC12A2 variants clustered in the cochlea-specific exon-21 region [PMID 32294086]. - Mechanism = impaired NKCC1-mediated K⁺ secretion → endolymph/EP failure → hair-cell transduction failure → SNHL + vestibular areflexia [PMID 10369265; 32294086; 40503591]. - SLC12A2 is an allelic series (dominant DFNA78 vs recessive Kilquist vs de novo Delpire-McNeill NDD) [PMID 30740830; 32658972; 33500540].

Refuted / disfavored: - Haploinsufficiency as the DFNA78 mechanism — disfavored: gnomAD shows SLC12A2 is not classically haploinsufficient (pLI≈0) and heterozygous LoF carriers/patients have normal hearing; DFNA78 arises from isoform-specific missense/splice (dominant-negative) alleles [PMID 40503591; gnomAD]. - Environmental/infectious causation — not applicable.

Limitations & Future Directions

• Very small number of reported families → penetrance, expressivity, prevalence, natural-history, and audiometric-progression data are limited.
• The dominant-negative mechanism is inferred from the dimeric structure and genotype–phenotype correlation; direct in-vivo proof (exon-21 knock-in models) is lacking.
• No DFNA78-specific omics, iPSC/organoid, or therapeutic-trial data. Future work: exon-21 knock-in mouse, patient iPSC-derived otic organoids, and allele-selective RNA/gene-editing therapeutics.

Key References (PMIDs)

• 32294086 — Mutai et al. 2020: exon-21 SLC12A2 variants cause hereditary hearing loss (foundational DFNA78).
• 32658972 — McNeill et al. 2020: SLC12A2 variants cause NDD or cochleovestibular defect (vestibular areflexia).
• 40503591 — Ludin et al. 2025: de novo SLC12A2 variant, congenital HL + vestibular areflexia; isoform/exon-21 review.
• 30740830 — Macnamara et al. 2019: Kilquist syndrome (biallelic SLC12A2 deletion).
• 33500540 — Bilal Shamsi et al. 2021: autosomal recessive SLC12A2 disease; C-terminal clustering.
• 10369265 — Delpire et al. 1999: Slc12a2-KO mouse deafness/imbalance, endolymph collapse.
• 17674100 — Diaz et al. 2007: NKCC1/Na,K-ATPase, endocochlear potential and hearing.
• 18093167 — Jin et al. 2008: loss of strial K⁺-transport proteins (incl. SLC12A2) in hereditary deafness.
• 36239040 / 32081947 / 37545407 — human NKCC1 cryo-EM structures.
• 33345190 / 37399495 — reviews: NKCC1 as a human disease-causing ion transporter.
• 26955005 / 38950809 — SLC12A2/NKCC1 GABA-polarity and bumetanide (neuro contexts; not DFNA78 therapy).

Artifacts

• OpenScientist final report
• OpenScientist final report

Reference Validation

Checked with linkml-reference-validator 0.2.1.

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:

• HP:0001270 (1 mention) - the report calls it "Occasional"; HP calls it Motor delay
• HP:0000360 (1 mention) - the report calls it "Not systematically reported"; HP calls it Tinnitus
• UBERON:0002429 (1 mention) - the report calls it "Tissue/cell level: cochlear lateral wall / stria vascularis"; UBERON calls it cervical lymph node

Terms whose name is worth a second look

The report's name for these is recognisably related to the term's own name without being one of them. A loose paraphrase reads the same way as a citation of the wrong sibling term - and so does a related synonym, which the ontology records precisely because it names something adjacent rather than the same thing - so these are listed rather than judged:

• GO:0016323 (1 mention) - the report calls it "Subcellular level: basolateral plasma membrane"; GO calls it basolateral plasma membrane

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: Orphanet, MGI.