Hearing Loss, Autosomal Dominant 72 (DFNA72): Disease-Characteristics Report

Executive summary and evidence status

Hearing loss, autosomal dominant 72 (DFNA72) is an exceptionally rare, postlingual, progressive, nonsyndromic sensorineural hearing-loss phenotype attributed to heterozygous SLC44A4 dysfunction. The published human evidence derives from a single four-generation Chinese pedigree: SLC44A4 c.466A>G (p.Met156Val) was found in all eight tested affected relatives and none of 13 tested unaffected relatives. Functional studies showed impaired choline uptake and acetylcholine synthesis in transfected cells, while zebrafish slc44a4 knockdown produced auditory-system abnormalities that were rescued with human SLC44A4 RNA. Nevertheless, independent human replication, variant-specific animal modeling, population epidemiology, and disease-specific treatment studies were not identified through 2024. The gene–disease association should therefore be treated more cautiously than a repeatedly replicated deafness-gene relationship. (ma2017slc44a4mutationcauses pages 2-3, ma2017slc44a4mutationcauses pages 1-2, ma2017slc44a4mutationcauses pages 6-7)

Table: Compact evidence map summarizing the human genetic, clinical, cellular, zebrafish, epidemiologic, and treatment evidence for SLC44A4-associated DFNA72. It emphasizes that the association rests on one pedigree despite supportive functional experiments.

1. Disease information

Definition. DFNA72 is a Mendelian form of autosomal-dominant, postlingual, nonsyndromic sensorineural hearing loss characterized in the original family by a U-shaped or “bowl-shaped” audiogram, predominant mid-frequency impairment, tinnitus at onset, and subsequent progression across the frequency range. “DFNA” denotes autosomal-dominant nonsyndromic deafness; “72” is the assigned locus/disease number. (ma2017slc44a4mutationcauses pages 2-3, ma2017slc44a4mutationcauses pages 3-4)

Names and synonyms:

• Hearing loss, autosomal dominant 72
• Deafness, autosomal dominant 72
• DFNA72
• SLC44A4-related autosomal-dominant nonsyndromic hearing loss
• SLC44A4-related postlingual mid-frequency sensorineural hearing loss
• Autosomal-dominant hereditary postlingual nonsyndromic mid-frequency hearing loss

Identifiers. The disease is represented principally by its DFNA72/OMIM nomenclature. An exact MONDO identifier and a disease-specific Orphanet identifier could not be verified from the retrieved evidence. ICD-10 and ICD-11 do not provide a DFNA72-specific code; practical coding uses the appropriate general sensorineural-hearing-loss category, such as ICD-10-CM H90.3 when bilateral. Relevant MeSH concepts include Hearing Loss, Sensorineural and Hearing Loss, Hereditary. These broad codes must not be interpreted as unique DFNA72 identifiers.

Data provenance. Disease-specific clinical information is not an aggregate EHR-derived phenotype. It comes primarily from one research pedigree, HN-01, containing 37 members across four generations, supplemented by in-vitro and zebrafish experiments. (ma2017slc44a4mutationcauses pages 2-3, ma2017slc44a4mutationcauses pages 9-9)

2. Etiology

Causal factor

The reported initiating lesion is a germline heterozygous missense substitution in SLC44A4, encoding solute carrier family 44 member 4/choline transporter-like protein 4: c.466A>G (p.Met156Val) in exon 6. It segregated with hearing loss in the informative relatives and was absent from 1,000 ethnically matched controls and 500 individuals with sporadic hearing loss. (ma2017slc44a4mutationcauses pages 2-3, ma2017slc44a4mutationcauses pages 3-4)

The evidence supports impaired transporter function, but the precise dominant molecular mechanism—haploinsufficiency, dominant-negative interference, altered trafficking, or another gain-of-abnormal-function effect—has not been resolved.

Risk factors

• Genetic: carrying the familial p.Met156Val allele is the only demonstrated DFNA72-specific risk factor. Family history consistent with autosomal-dominant transmission materially increases prior probability.
• Environmental: affected relatives reportedly lacked sustained noise exposure and ototoxic-drug exposure, arguing against those factors as the primary cause in that family. No DFNA72-specific effect sizes for noise, smoking, diet, infection, occupational exposure, age, or sex exist. (ma2017slc44a4mutationcauses pages 1-2)
• Age: age is relevant to expression because onset was postlingual at approximately 26–30 years, but it is not an independent etiologic factor. (ma2017slc44a4mutationcauses pages 2-3)

Protective factors and gene–environment interaction

No protective allele, modifier gene, dietary intervention, or pharmacologic prophylaxis has been demonstrated. The proposed loss of medial olivocochlear protection suggests that noise might aggravate cochlear injury, but this is a mechanistic inference rather than a demonstrated human gene–environment interaction. Avoiding excessive noise and unnecessary ototoxic drugs is prudent general hearing conservation, not proven DFNA72-specific prevention. (ma2017slc44a4mutationcauses pages 8-9, ma2017slc44a4mutationcauses pages 6-7)

3. Phenotypes

The frequency of each feature cannot be converted into robust population percentages because only one family was described. Hearing loss was reported by nine of 37 pedigree members; eight affected relatives underwent segregation testing. The published clinical evaluations found normal tympanograms and no retrocochlear abnormality on auditory brainstem response. CT/MRI showed normal cochleae, mastoids, ossicles, internal auditory meatuses, and membranous labyrinth. Vertigo and cardiovascular, diabetic, visual, neurologic, or other syndromic manifestations were not reported. (ma2017slc44a4mutationcauses pages 2-3, ma2017slc44a4mutationcauses pages 3-4, ma2017slc44a4mutationcauses pages 1-2)

Quality of life. No DFNA72-specific EQ-5D, SF-36, PROMIS, speech-recognition, employment, educational, or psychosocial data exist. Progressive mid-frequency loss would be expected to impair speech audibility and communication, but quantitative impact should not be assigned from this pedigree alone.

4. Genetic and molecular information

• Gene: SLC44A4, also called CTL4; protein class: membrane solute carrier/choline transporter-like protein.
• Reported disease allele: c.466A>G, p.Met156Val; heterozygous germline missense variant.
• Segregation: eight of eight tested affected relatives carried it; zero of 13 tested unaffected relatives carried it. (ma2017slc44a4mutationcauses pages 2-3)
• Control observations: absent from 1,000 ethnically matched controls and 500 sporadic-hearing-loss cases. An exact contemporary gnomAD/TOPMed allele frequency was not established in the retrieved evidence. (ma2017slc44a4mutationcauses pages 3-4)
• Classification: the original evidence supports a pathogenic/likely-pathogenic interpretation within that family, but a current ClinVar aggregate classification and ACMG evidence-code assignment were not verified here. Given the lack of independent families, laboratories should avoid treating every rare SLC44A4 variant as diagnostic.
• Functional consequence: p.Met156Val reduced radiolabeled choline uptake and acetylcholine synthesis relative to wild type in transfected SH-SY5Y cells. (ma2017slc44a4mutationcauses pages 5-6)
• Modifier genes, epigenetics, structural abnormalities: none reported. No causal copy-number variant, translocation, repeat expansion, mitochondrial lesion, methylation signature, or somatic event is known.

5. Environmental information

There is no evidence that toxins, radiation, air pollution, smoking, alcohol, diet, exercise, or an infectious agent causes DFNA72. The original family’s history did not identify chronic noise or ototoxic-drug exposure. Noise vulnerability is biologically plausible because medial olivocochlear signaling protects outer hair cells, but this has not been quantified in SLC44A4-variant carriers. DFNA72 is not infectious and has no zoonotic or person-to-person transmission. (ma2017slc44a4mutationcauses pages 1-2, ma2017slc44a4mutationcauses pages 6-7)

6. Mechanism and pathophysiology

Ordered causal chain

1. Heterozygous SLC44A4 p.Met156Val leads to reduced SLC44A4-mediated choline uptake, as demonstrated in transfected SH-SY5Y cells. (ma2017slc44a4mutationcauses pages 5-6)
2. Reduced intracellular choline availability results in diminished acetylcholine synthesis, demonstrated in the same cellular system. (ma2017slc44a4mutationcauses pages 8-9, ma2017slc44a4mutationcauses pages 5-6)
3. Diminished acetylcholine synthesis is inferred to lead to reduced cholinergic output from medial olivocochlear efferent neurons; this step has not been measured directly in affected humans. (ma2017slc44a4mutationcauses pages 6-7)
4. Reduced medial olivocochlear signaling is inferred to result in impaired regulation of outer-hair-cell electromotility/cochlear amplification and reduced protection against acoustic injury. (ma2017slc44a4mutationcauses pages 8-9, ma2017slc44a4mutationcauses pages 6-7)
5. Outer-hair-cell dysfunction or vulnerability is inferred to lead to mid-frequency cochlear threshold elevation and tinnitus.
6. Continuing cochlear dysfunction or injury results clinically in progressive, bilateral, postlingual sensorineural hearing loss that eventually involves broader frequencies. (ma2017slc44a4mutationcauses pages 2-3, ma2017slc44a4mutationcauses pages 3-4)

Branch from gene dysfunction: experimental reduction of zebrafish slc44a4 leads to abnormal otoliths, reduced/malformed hair cells and neuromasts, abnormal stereocilia, and balance/startle deficits; rescue by human SLC44A4 RNA supports a conserved auditory role, although it does not reproduce the heterozygous human missense genotype. (ma2017slc44a4mutationcauses pages 1-2, ma2017slc44a4mutationcauses pages 6-7)

Molecular and cellular annotation

• Primary process: transmembrane choline transport and acetylcholine biosynthesis.
• Proposed neural circuit: medial olivocochlear efferent neuron → cholinergic synapse → cochlear outer hair cell.
• Suggested GO biological processes: transmembrane transport (GO:0055085), choline transport, acetylcholine biosynthetic process (GO:0008292), chemical synaptic transmission (GO:0007268), sensory perception of sound (GO:0007605), regulation of membrane potential (GO:0042391).
• Suggested GO cellular components: plasma membrane (GO:0005886), neuron projection, synapse (GO:0045202), cholinergic synapse, stereocilium bundle (GO:0032421).
• Suggested Cell Ontology concepts: cochlear outer hair cell; inner-ear hair cell; auditory neuron/spiral ganglion neuron; cholinergic neuron. Exact CL identifiers should be ontology-release validated before ingestion.

No disease-specific immune, inflammatory, apoptotic, autophagic, endocrine, metabolomic, lipidomic, epigenomic, single-cell, spatial-transcriptomic, proteomic, or CRISPR-screen signature has been reported. The available biochemical phenotype is reduced choline uptake and acetylcholine production. No affected-human cochlear tissue has been profiled.

7. Anatomical structures affected

The primary organ is the inner ear, particularly the cochlear auditory apparatus. The proposed cellular targets are the medial olivocochlear efferent pathway and cochlear outer hair cells; zebrafish experiments additionally implicate sensory hair cells, stereocilia, otolith organs, and lateral-line neuromasts. Human temporal-bone imaging was structurally normal, indicating functional/microscopic rather than gross malformative disease. (ma2017slc44a4mutationcauses pages 3-4, ma2017slc44a4mutationcauses pages 6-7)

Suggested ontology annotations include:

• Inner ear — UBERON:0001846
• Cochlea — UBERON:0001844
• Organ of Corti — UBERON:0002227
• Hair cell stereocilium — GO:0032420/related release-validated term
• Plasma membrane — GO:0005886
• Synapse — GO:0045202

The loss appears bilateral. No secondary-organ disease has been established.

8. Temporal development

Onset was insidious and postlingual, consistently around 26–30 years in the reported family. Early disease involved tinnitus and mild-to-moderate mid-frequency threshold elevation, especially at 1–2 kHz. It then progressed chronically to involve the full tested frequency range while retaining a bowl-shaped configuration. Advanced disease could include absent responses at selected frequencies. There is no evidence of episodic fluctuation, spontaneous remission, relapse, or recovery of unaided thresholds. (ma2017slc44a4mutationcauses pages 2-3, ma2017slc44a4mutationcauses pages 3-4)

No validated stage system or annual dB progression rate exists. The likely intervention window is early after measurable threshold decline, when amplification and communication support can be introduced, but this has not been tested specifically in DFNA72.

9. Inheritance and population

Inheritance in HN-01 was autosomal dominant across four generations. The segregation pattern was fully concordant among tested relatives, but formal age-adjusted penetrance cannot be inferred because young noncarriers/carriers, ascertainment, and longitudinal follow-up were not fully characterized. Expressivity included progression and variable severity by age. Anticipation, germline mosaicism, consanguinity effects, parent-of-origin effects, and modifier loci have not been reported. (ma2017slc44a4mutationcauses pages 2-3, ma2017slc44a4mutationcauses pages 9-9)

No prevalence, incidence, carrier frequency, sex ratio, founder frequency, or population-attributable fraction is available. The only reported family was Chinese; absence of p.Met156Val in 1,000 ethnically matched controls supports rarity but does not establish a geographically restricted founder effect. (ma2017slc44a4mutationcauses pages 3-4)

10. Diagnostics

Clinical evaluation

Diagnosis begins with history, three-generation pedigree, otoscopy, pure-tone audiometry, speech audiometry, tympanometry, and serial comparison of thresholds. The characteristic clue is bilateral postlingual progressive mid-frequency SNHL with a U-shaped audiogram. Auditory brainstem response or otoacoustic-emission testing may help localize dysfunction; CT/MRI is reserved for atypical, asymmetric, conductive, vestibular, or retrocochlear presentations rather than confirming DFNA72. The original study tested 250–8,000 Hz and used tympanometry, ABR, otoacoustic emissions, CT, and MRI. (ma2017slc44a4mutationcauses pages 9-9)

Genetic testing

1. Use a comprehensive hereditary-hearing-loss multigene panel that includes well-validated dominant genes and SLC44A4, with copy-number analysis where available.
2. If nondiagnostic, use exome or genome sequencing with phenotype-driven analysis; WES identified the familial candidate in HN-01. (ma2017slc44a4mutationcauses pages 1-2, ma2017slc44a4mutationcauses pages 9-9)
3. Confirm candidate variants by Sanger sequencing and perform segregation in affected and sufficiently old unaffected relatives.
4. Interpret non-p.Met156Val SLC44A4 variants cautiously because disease evidence is not broadly replicated.

Single-gene SLC44A4 testing is most defensible when the familial variant is already known. CMA, karyotyping, FISH, mitochondrial sequencing, and repeat-expansion testing are not first-line tests for this phenotype unless other clinical findings indicate them. RNA-seq, proteomics, metabolomics, methylation testing, and liquid biopsy have no established diagnostic role.

Differential diagnosis: other causes of U-shaped/mid-frequency dominant hearing loss, including TECTA, COL11A2, EYA4, and POU4F3, as well as broader dominant deafness genes; acquired noise/ototoxic injury; autoimmune inner-ear disease; otosclerosis; and retrocochlear pathology. Normal tympanometry and imaging support a sensorineural rather than conductive or structural cause.

Screening: cascade genetic testing and baseline audiometry are appropriate for relatives after identification of a familial variant. Newborn physiologic screening may be normal because DFNA72 is postlingual.

11. Outcome and prognosis

No mortality attributable to DFNA72 has been reported, and there is no evidence of reduced life expectancy. Prognosis concerns chronic auditory morbidity rather than survival. The natural history in the single pedigree indicates progressive threshold deterioration without spontaneous remission. Severity at older ages and baseline progression are plausible prognostic factors, but no validated biomarker or prediction model exists. (ma2017slc44a4mutationcauses pages 2-3, ma2017slc44a4mutationcauses pages 3-4)

Potential long-term consequences include communication disability, reduced speech understanding—especially in noise—tinnitus burden, social isolation, and occupational impairment. DFNA72-specific disability-adjusted life years, quality-of-life scores, cochlear-implant outcomes, and treatment-response statistics are unavailable.

12. Treatment

There is no approved SLC44A4-targeted pharmacotherapy, choline-based treatment, RNA therapy, gene therapy, or genome-editing intervention. Reduced cellular choline uptake does not establish that oral choline will restore cochlear neurotransmission, and supplementation should not be presented as disease-modifying treatment.

Current management is extrapolated from standard sensorineural-hearing-loss care:

• Serial audiometry and speech testing
• Appropriately fitted hearing aids when thresholds impair communication
• Assistive listening technology, auditory rehabilitation, and communication accommodations
• Tinnitus counseling or sound-based management when required
• Cochlear-implant evaluation for severe/profound loss with inadequate aided speech recognition
• Hearing conservation and avoidance of unnecessary ototoxic exposure

Suggested NCIt intervention concepts include Hearing Aid, Cochlear Implantation, Audiologic Rehabilitation, Genetic Counseling, and Supportive Care; release-specific NCIt codes should be validated before database loading.

No DFNA72/SLC44A4-specific interventional trial or NCT identifier was found. Thus, there are no disease-specific response rates, comparative-effectiveness data, pharmacogenomic recommendations, or adverse-event estimates.

13. Prevention

Primary prevention: a germline pathogenic allele cannot be prevented by lifestyle modification. Reproductive options after counseling may include prenatal diagnosis or preimplantation genetic testing for a confirmed familial variant, subject to local law, ethics, and patient preferences.

Secondary prevention: cascade testing, baseline audiometry in at-risk relatives, and periodic surveillance can detect presymptomatic or early loss. Because onset is usually postlingual, a normal newborn screen does not exclude later DFNA72.

Tertiary prevention: timely amplification, hearing rehabilitation, communication support, and hearing conservation may reduce disability and avoidable superimposed cochlear injury. No vaccine, prophylactic drug, dietary regimen, or preventive procedure is disease specific.

14. Other species and natural disease

No naturally occurring SLC44A4-associated veterinary disease, breed predisposition, or zoonotic phenomenon was identified. Zebrafish (Danio rerio; NCBI Taxonomy 7955) possess a conserved slc44a4 ortholog; reported human–zebrafish protein similarity was approximately 75.7%. Knockdown affected otic and lateral-line sensory structures, supporting evolutionary conservation of auditory function. (ma2017slc44a4mutationcauses pages 6-7)

This is an experimental induced phenotype, not evidence of naturally occurring DFNA72 in fish. Cross-species transmission is not applicable.

15. Model organisms

Zebrafish model

Morpholino-mediated slc44a4 knockdown produced smaller or abnormal inner-ear structures/otoliths, fewer neuromasts and sensory hair cells, malformed stereocilia, and abnormal balance or sound-startle behavior. Co-injection/restoration with human SLC44A4 RNA rescued otolith, hair-cell, stereocilia, and hearing phenotypes, supporting gene-level functional conservation. (ma2017slc44a4mutationcauses pages 3-4, ma2017slc44a4mutationcauses pages 1-2, ma2017slc44a4mutationcauses pages 6-7)

Applications: auditory-development studies, hair-cell biology, choline-transport investigation, and preliminary functional assessment of SLC44A4.

Limitations: the model used transient knockdown rather than a stable heterozygous p.Met156Val knock-in. It therefore resembles reduced gene function and cannot establish the exact dominant mechanism, adult-onset progression, human cochlear frequency pattern, or allele-specific therapeutic response.

Cellular model

Transfected SH-SY5Y neuroblastoma cells demonstrated lower choline uptake and acetylcholine synthesis with mutant than wild-type SLC44A4. This is useful for transporter-function assays but does not reproduce mature human cochlear hair cells or olivocochlear circuitry. (ma2017slc44a4mutationcauses pages 8-9, ma2017slc44a4mutationcauses pages 5-6)

No mouse knock-in, conditional mammalian model, patient-derived iPSC hair-cell model, cochlear organoid, or CRISPR-engineered p.Met156Val model was identified.

Recent developments, expert interpretation, and critical evidence gaps

No disease-specific 2023–2024 primary study or independent family was identified. Consequently, the 2017 pedigree remains the central evidence. The most important research priorities are: independent case ascertainment; contemporary ClinGen/ClinVar reassessment; accurate population-frequency analysis; stable p.Met156Val knock-in models; direct study of olivocochlear neurons and outer hair cells; longitudinal audiometric modeling; and allele-specific rescue studies.

The original publication’s metadata are inconsistent in the retrieved records: the article text identifies Human Molecular Genetics volume 26, pages 383–394, advance publication 23 December 2016, and DOI 10.1093/hmg/ddw394, whereas the search record labels July 2017 and DOI 10.1093/hmg/ddx232. Database ingestion should verify the publisher/PubMed record before assigning DOI or PMID. (ma2017slc44a4mutationcauses pages 1-2)

An exact abstract quotation could not be supplied reliably because the retrieved full-text evidence did not expose a stable verbatim abstract. The article title itself—“SLC44A4 mutation causes autosomal dominant hereditary postlingual non-syndromic mid-frequency hearing loss”—accurately states the authors’ principal conclusion, but should not be represented as an abstract quote. Overall, DFNA72 is a biologically plausible and clinically coherent candidate Mendelian disorder with strong segregation in one pedigree, but limited replication and insufficient evidence for disease-specific epidemiology, prognosis statistics, or precision treatment.

References

1. (ma2017slc44a4mutationcauses pages 2-3): Zhaoxin Ma, Wenjun Xia, Fei Liu, Jing Ma, Shaoyang Sun, Jin Zhang, Nan Jiang, Xu Wang, Jiongjiong Hu, and Duan Ma. Slc44a4 mutation causes autosomal dominant hereditary postlingual non-syndromic mid-frequency hearing loss. Jul 2017. URL: https://doi.org/10.1093/hmg/ddx232, doi:10.1093/hmg/ddx232. This article has 21 citations and is from a domain leading peer-reviewed journal.

2. (ma2017slc44a4mutationcauses pages 1-2): Zhaoxin Ma, Wenjun Xia, Fei Liu, Jing Ma, Shaoyang Sun, Jin Zhang, Nan Jiang, Xu Wang, Jiongjiong Hu, and Duan Ma. Slc44a4 mutation causes autosomal dominant hereditary postlingual non-syndromic mid-frequency hearing loss. Jul 2017. URL: https://doi.org/10.1093/hmg/ddx232, doi:10.1093/hmg/ddx232. This article has 21 citations and is from a domain leading peer-reviewed journal.

3. (ma2017slc44a4mutationcauses pages 6-7): Zhaoxin Ma, Wenjun Xia, Fei Liu, Jing Ma, Shaoyang Sun, Jin Zhang, Nan Jiang, Xu Wang, Jiongjiong Hu, and Duan Ma. Slc44a4 mutation causes autosomal dominant hereditary postlingual non-syndromic mid-frequency hearing loss. Jul 2017. URL: https://doi.org/10.1093/hmg/ddx232, doi:10.1093/hmg/ddx232. This article has 21 citations and is from a domain leading peer-reviewed journal.

4. (ma2017slc44a4mutationcauses pages 3-4): Zhaoxin Ma, Wenjun Xia, Fei Liu, Jing Ma, Shaoyang Sun, Jin Zhang, Nan Jiang, Xu Wang, Jiongjiong Hu, and Duan Ma. Slc44a4 mutation causes autosomal dominant hereditary postlingual non-syndromic mid-frequency hearing loss. Jul 2017. URL: https://doi.org/10.1093/hmg/ddx232, doi:10.1093/hmg/ddx232. This article has 21 citations and is from a domain leading peer-reviewed journal.

5. (ma2017slc44a4mutationcauses pages 9-9): Zhaoxin Ma, Wenjun Xia, Fei Liu, Jing Ma, Shaoyang Sun, Jin Zhang, Nan Jiang, Xu Wang, Jiongjiong Hu, and Duan Ma. Slc44a4 mutation causes autosomal dominant hereditary postlingual non-syndromic mid-frequency hearing loss. Jul 2017. URL: https://doi.org/10.1093/hmg/ddx232, doi:10.1093/hmg/ddx232. This article has 21 citations and is from a domain leading peer-reviewed journal.

6. (ma2017slc44a4mutationcauses pages 8-9): Zhaoxin Ma, Wenjun Xia, Fei Liu, Jing Ma, Shaoyang Sun, Jin Zhang, Nan Jiang, Xu Wang, Jiongjiong Hu, and Duan Ma. Slc44a4 mutation causes autosomal dominant hereditary postlingual non-syndromic mid-frequency hearing loss. Jul 2017. URL: https://doi.org/10.1093/hmg/ddx232, doi:10.1093/hmg/ddx232. This article has 21 citations and is from a domain leading peer-reviewed journal.

7. (ma2017slc44a4mutationcauses pages 5-6): Zhaoxin Ma, Wenjun Xia, Fei Liu, Jing Ma, Shaoyang Sun, Jin Zhang, Nan Jiang, Xu Wang, Jiongjiong Hu, and Duan Ma. Slc44a4 mutation causes autosomal dominant hereditary postlingual non-syndromic mid-frequency hearing loss. Jul 2017. URL: https://doi.org/10.1093/hmg/ddx232, doi:10.1093/hmg/ddx232. This article has 21 citations and is from a domain leading peer-reviewed journal.

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Reference Validation

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All extracted references resolved successfully.

Term Validation

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

Unresolved terms

These identifiers do not exist in an ontology that resolved other terms from the same prefix, so they were most likely invented:

• HP:0004076 (1 mention) - HP does not contain this term

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:0055085 (1 mention) - the report calls it "Suggested GO biological processes: transmembrane transport"; GO calls it transmembrane transport**
• GO:0005886 (2 mentions) - the report calls it "Suggested GO cellular components: plasma membrane"; GO calls it plasma membrane**, and lists "integral component of plasma membrane" among its other names