Oculoauricular syndrome: disease-characteristics research report

Disease: Oculoauricular syndrome, Schorderet type
Mondo: MONDO:0012802
OMIM: 612109
Causal gene: HMX1
Inheritance: Autosomal recessive
Evidence cut-off: 15 October 2026

Executive summary

Oculoauricular syndrome (OAS) is an exceptionally rare congenital Mendelian disorder caused by biallelic pathogenic variants in HMX1, a homeobox transcription-factor gene. Its defining combination is:

1. Developmental eye malformations, particularly microphthalmia, microcornea, anterior-segment dysgenesis, congenital or developmental cataract, and ocular coloboma;
2. Early-onset, progressive rod-cone retinal dystrophy with substantial visual impairment; and
3. Characteristic external-ear cartilage malformations, including low-set or protruding pinnae, crumpled helices, narrow external acoustic meatus/intertragic notch, and absent or cleft lobules.

OMIM assigns phenotype number 612109 and maps it to HMX1 at 4p16.1 with autosomal-recessive inheritance; MedGen maps the condition to MONDO:0012802, ORPHA:157962, and Concept ID C2677500.[31][33] This entity must not be conflated with oculo-auriculo-vertebral spectrum/Goldenhar syndrome, which usually involves facial asymmetry, mandibular hypoplasia, epibulbar dermoids, vertebral anomalies, and a heterogeneous or multifactorial etiology.

The human evidence base remains extremely small. The first family was published in 2008, and a 2026 cohort paper described the fifth documented family; a separate July 2026 case report adds another likely family. Therefore, percentages should not be inferred from ontology databases: fewer than approximately a dozen molecularly confirmed individuals in about six families have been reported in sufficient detail. The recent 2026 reports expanded the allelic series with c.570_571del, p.(Glu191Argfs*34) and c.233_251dup, p.(Ala85Argfs*53).[145][5]

1. Disease information

1.1 Definition

OAS is a congenital developmental disorder in which loss or severe disruption of HMX1 function interferes with formation of the eye, retina, and external ear. MedGen defines it as complex ocular anomalies—congenital cataract, anterior-segment dysgenesis, iris coloboma, and early retinal dystrophy—together with dysplastic external-ear cartilage.[33]

A concise knowledge-base definition is:

A rare autosomal-recessive developmental disorder caused by biallelic HMX1 variants and characterized by congenital eye malformations, progressive rod-cone dystrophy, and distinctive malformation of the external ear.

1.2 Identifiers and nomenclature

Synonyms

• Oculoauricular syndrome
• Oculo-auricular syndrome
• Oculoauricular syndrome, Schorderet type
• Schorderet–Munier–Franceschetti syndrome
• OCACS
• Microphthalmia–microcornea–anterior-segment dysgenesis–cataract–ocular-coloboma–retinal-dystrophy–external-ear-anomalies syndrome.[106]

1.3 Evidence granularity

Most information is aggregated from disease resources—OMIM, Orphanet, MedGen, GTR, HPO-derived databases—but ultimately derives from a handful of published pedigrees. It is not based on a large registry or EHR-derived cohort. Patient-level details in the primary literature are therefore disproportionately important, while database percentages can be misleading.

2. Etiology

2.1 Primary causal factor

The established cause is a biallelic germline pathogenic or likely pathogenic variant in HMX1, generally causing loss of transcription-factor function. The original 2008 pedigree carried a homozygous 26-bp deletion producing a truncated protein without the complete homeodomain. The abstract states:

“Linkage analysis and mutation screening revealed in the first exon of the NKX5-3 gene a homozygous 26 nucleotide deletion, generating a truncating protein that lacked the complete homeodomain.”

—Schorderet et al., American Journal of Human Genetics, 2 May 2008; PMID: 18423520, DOI 10.1016/j.ajhg.2008.03.007; PubMed.[61]

The human inheritance pattern, segregation, and model-organism findings collectively support a loss-of-function disease mechanism.

2.2 Genetic risk factors

• Homozygosity or, in principle, compound heterozygosity for pathogenic HMX1 alleles.
• Parental consanguinity, which increases the probability that both parents carry the same rare allele.
• Having two carrier parents: each pregnancy has the standard autosomal-recessive expectation of 25% affected, 50% carrier, and 25% unaffected/non-carrier, assuming both parental variants are confirmed and no unusual mosaicism.
• Family history of the eye-plus-external-ear phenotype.

No reproducible susceptibility loci, polygenic scores, or GWAS associations have been established.

2.3 Environmental, infectious, and lifestyle risks

There is no evidence that toxins, infection, diet, smoking, alcohol, occupation, pollution, or postnatal lifestyle cause HMX1-related OAS. Environmental teratogens can produce overlapping microphthalmia or external-ear malformations and are therefore relevant to differential diagnosis, but not established causes of molecularly confirmed OAS.

2.4 Protective factors and gene–environment interaction

No protective HMX1 allele, modifier allele, dietary intervention, medication, or environmental exposure has been demonstrated to reduce penetrance. No disease-specific gene–environment interaction has been established. General avoidance of teratogens is sound prenatal care but is not proven to prevent OAS in a fetus carrying biallelic pathogenic HMX1 variants.

3. Phenotypes

Because the number of reported patients is tiny and ascertainment is ophthalmology-driven, robust frequencies are unavailable. “Characteristic” below means repeatedly reported, not a validated percentage.

The 2015 clinical study concluded that OAS has “a profound effect on the development of the external ear, anterior segment, and retina, leading to significant visual loss at an early age.” PMID: 25574057, 8 January 2015, PubMed.[2]

A 12-year longitudinal assessment specifically established that:

“The retinal degeneration in the recessively inherited oculo-auricular syndrome is a progressive rod-cone dystrophy.”

—Vaclavik et al., Ophthalmic Genetics, June 2011; PMID: 21417677, PubMed.[4]

Hearing

Despite conspicuous outer-ear malformation, hearing was reported as normal in the foundational families. Hearing loss should not be assumed to be a core feature; nevertheless, formal audiology is prudent because the auditory canal can be narrow and the evidence base is small.[26]

Quality of life

No OAS-specific EQ-5D, SF-36, PROMIS, or vision-related quality-of-life cohort has been published. The dominant expected burden is childhood visual impairment and progressive retinal degeneration, affecting education, mobility, employment options, face recognition, and independence. Ear morphology principally contributes cosmetic and psychosocial burden unless canal stenosis produces functional impairment.

4. Genetic and molecular information

4.1 Causal gene and protein

The identifier mapping is supported by NCBI, MGI, and GenCC.[120][126][40]

4.2 Published OAS-associated variants

Transcript numbering differs between publications; variants should be normalized to the laboratory’s current MANE transcript before clinical reporting.

These are germline, not somatic, variants. Population frequencies are either absent or extremely low; the original deletion was absent from disease and ethnically matched controls. No recurrent common pathogenic allele, founder mutation, or reliable carrier frequency is known.

A heterozygous HMX1 c.335G>T, p.(Gly112Val) VUS was reported in a patient whose coloboma was attributed to another gene and who lacked typical OAS ear anomalies; this does not establish dominant HMX1 disease.[136]

4.3 Functional consequences

• Truncating alleles before or within the homeodomain are expected to abolish DNA binding, nuclear localization, dimerization, or all three.
• p.Gln217Pro changes a highly conserved homeodomain residue and impairs HMX1 function without necessarily reducing protein abundance.[92]
• HMX1 normally dimerizes through its SD1 and homeodomains, localizes to the nucleus, and represses EPHA6/epha4b, a retinal axon-guidance gene. PMID: 24945320, 19 June 2014, PubMed.[131]

4.4 Modifiers, epigenetics and chromosomal abnormalities

No confirmed modifier gene, disease-specific methylation signature, histone-mark abnormality, or somatic mosaic mechanism is known.

A distinct HMX1 regulatory mechanism should be kept separate from OAS: duplications involving a long-range HMX1 enhancer can cause isolated bilateral concha-type microtia, apparently through altered dosage or spatiotemporal expression rather than biallelic coding loss. This is relevant to testing unexplained isolated microtia but is not the canonical OAS genotype.[41]

No recurrent OAS-causing aneuploidy, translocation, or inversion has been established.

5. Environmental information

6. Mechanism and pathophysiology

6.1 Ordered causal chain

1. Biallelic truncating or function-disrupting HMX1 variants lead to absent or defective HMX1 homeodomain-transcription-factor activity.
2. Defective homeodomain/SD1 function leads to impaired nuclear localization, DNA binding and/or HMX1 dimerization; these effects are demonstrated for domain disruption and mechanistically supported for reported variants.[131]
3. Loss of transcriptional control leads to dysregulation of developmental targets, including insufficient repression of EPHA6/epha4b in the retina and altered regulation of uhrf1 in zebrafish craniofacial tissues.[78][79]
4. Retinal target dysregulation leads to abnormal nasal–temporal retinal patterning, delayed retinal-progenitor cell-cycle exit and impaired differentiation; zebrafish evidence also shows increased apoptosis in eye and brain.[82]
5. Abnormal progenitor differentiation and cell survival lead to microphthalmia, retinal stratification defects, macular/optic-disc abnormalities and malformed anterior-segment structures. The precise route from HMX1 target dysregulation to each human malformation remains partly inferred.
6. Persistent developmental and cellular defects lead to two retinal branches:
   6a. Malformed anterior segment/lens leads to microcornea, cataract, synechiae, sclerocornea and glaucoma risk.
   6b. Photoreceptor/retinal-network dysfunction leads to early rod dysfunction followed by broader photoreceptor degeneration and progressive visual loss.
7. HMX1 deficiency in second-branchial-arch and auricular mesenchyme leads to abnormal external-ear cartilage morphogenesis, producing a crumpled or protruding pinna, narrow meatus/intertragic notch and lobule aplasia or clefting. The specific downstream effector program in human auricular mesenchyme is not yet fully demonstrated.
8. Combined congenital ocular malformation and progressive retinal degeneration result in infantile nystagmus, poor acuity, night blindness, restricted visual field and lifelong visual disability.

6.2 Molecular and cellular detail

HMX1 is expressed in the embryonic eye, neural retina, lens, branchial arches, otic region, trigeminal ganglion and dorsal-root ganglia. In human embryos, expression has been observed in the optic vesicle at approximately 5–6 weeks and in developing pinna/auricular mesenchyme later in gestation.[83][84]

Important experimentally supported functions include:

• Retinal progenitor differentiation: zebrafish knockdown delays withdrawal from the cell cycle and retards retinal differentiation.
• Cell survival: increased apoptosis occurs in the zebrafish eye and brain.
• Retinal regionalization: polarized nasal retinal expression suggests a role in nasal–temporal patterning.
• Axon guidance: HMX1 dimerization is required to inhibit EPHA6/epha4b expression.
• Craniofacial transcriptional regulation: zebrafish Hmx1 regulates uhrf1, although its relevance to every human OAS feature remains inferential.

The zebrafish retinogenesis abstract directly reports:

“Knockdown of hmx1 led to microphthalmia. Delayed withdrawal of retinal progenitors from the cell cycle resulting in retarded retinal differentiation was observed in morphant. The retina and brain also showed an increased cell death at 24 hpf.”

—Boisset and Schorderet, 2012; PMID: 23068565, PubMed.[82]

Suggested GO terms

• GO:0006355 regulation of DNA-templated transcription
• GO:0045944 positive regulation of transcription by RNA polymerase II, where experimentally appropriate
• GO:0000122 negative regulation of transcription by RNA polymerase II
• GO:0042461 photoreceptor cell development
• GO:0060041 retina development in camera-type eye
• GO:0001709 cell fate determination
• GO:0045165 cell fate commitment
• GO:0007049 cell cycle
• GO:0006915 apoptotic process
• GO:0007411 axon guidance
• GO:0042471 ear morphogenesis
• GO:0005634 nucleus
• GO:0003677 DNA binding
• GO:0003700 DNA-binding transcription-factor activity

Suggested Cell Ontology terms

• CL:0000740 retinal pigment epithelial cell
• CL:0000210 photoreceptor cell
• CL:0000604 retinal rod cell
• CL:0000573 retinal cone cell
• CL:0000748 retinal ganglion cell
• CL:0002633 retinal progenitor cell, if supported by the ontology release used
• Lens epithelial cell
• Cranial neural-crest-derived mesenchymal cell
• Chondrocyte of auricular cartilage

6.3 Metabolism, immunity, tissue injury and omics

No characteristic systemic metabolic, lipidomic, metabolomic, inflammatory, autoimmune, or immunodeficiency mechanism is established. Tissue injury is principally developmental malformation followed by retinal neurodegeneration rather than inflammation, fibrosis, infection or ischemia.

No validated human OAS:

• blood biomarker,
• transcriptomic signature,
• proteomic profile,
• metabolomic/lipidomic signature,
• single-cell atlas,
• spatial-transcriptomic dataset,
• patient-iPSC model,
• organoid series, or
• multi-omics diagnostic classifier

has been reported. This is a major research gap.

7. Anatomical structures affected

The phenotype is usually bilateral, although severity can be asymmetric. Ear and eye findings may not be identical from side to side.

8. Temporal development

• Initiation: embryonic, during eye and branchial-arch morphogenesis.
• Clinical onset: congenital for structural eye and ear abnormalities.
• Early childhood: poor vision and nystagmus become evident; retinal electrophysiology may reveal rod-cone dysfunction.
• Later childhood and adulthood: retinal dystrophy progresses; cataract and glaucoma may add further impairment.
• Course: structural malformations are stable, while retinal degeneration is chronic and progressive.
• Duration: lifelong.
• Remission: no spontaneous remission is expected.
• Critical periods: prenatal organogenesis for disease causation; infancy and early childhood for cataract assessment, amblyopia management, glaucoma detection, visual habilitation and educational support.

There is no validated disease-stage classification. A practical clinical framework is: congenital structural phase, early visual-development phase, progressive retinal-dystrophy phase, and advanced visual-disability phase.

9. Inheritance and population

9.1 Epidemiology

No population prevalence or annual incidence has been measured. The condition is ultra-rare. As of early 2026, one review/case series described only five documented families; the later 2026 case report likely raises the published number to approximately six.[66][5]

Thus:

• Prevalence per 100,000: unknown
• Incidence per 100,000 births: unknown
• Carrier frequency: unknown
• Population-screening frequency: not established
• Sex ratio: not estimable
• Geographic/ethnic predilection: none established

Reported families include European, Asian/Pakistani and Egyptian or other Middle Eastern/North African ancestry, but this pattern likely reflects consanguinity and case ascertainment rather than ethnic specificity.

9.2 Genetic behavior

10. Diagnostics

10.1 Clinical evaluation

Diagnosis should be suspected when characteristic external-ear malformation occurs with congenital ocular anomalies, especially microphthalmia/microcornea, cataract, coloboma and early retinal dystrophy.

Recommended baseline assessment:

1. Complete dysmorphology and three-generation family history, including consanguinity.
2. Slit-lamp examination, cycloplegic refraction and measurement of corneal diameter/axial length.
3. Dilated fundus examination and wide-field retinal photography.
4. Optical coherence tomography where feasible.
5. Full-field electroretinography to document rod-cone dysfunction.
6. Intraocular-pressure measurement, gonioscopy where anatomically possible, and optic-nerve monitoring.
7. B-scan ocular ultrasonography if media opacity prevents fundus examination.
8. Audiology and otoscopic examination, despite normal hearing in early reports.
9. Developmental assessment if delay, gait abnormality or neurologic signs are present.

No blood chemistry, enzyme assay, biopsy or histopathologic test is diagnostic.

10.2 Genetic testing algorithm

1. First-line: a congenital eye-malformation, microphthalmia/coloboma, cataract, or inherited-retinal-disease panel that includes HMX1, with deletion/duplication calling.
2. If the phenotype is highly characteristic: sequence HMX1 with copy-number analysis; Sanger sequencing remains suitable for familial variant confirmation.
3. If panel testing is negative: trio WES or preferably WGS, because the differential is broad and WGS can detect coding, splice, copy-number and regulatory variants.
4. CMA: useful when developmental delay, multiple congenital abnormalities or a possible chromosomal syndrome accompanies the ocular phenotype; it is not the optimal standalone test for small HMX1 sequence variants.
5. Karyotype/FISH: only when a visible chromosomal rearrangement is suspected.
6. RNA sequencing: potentially useful for a suspected splice variant, but not a validated routine OAS assay.
7. Not indicated routinely: mitochondrial sequencing, repeat-expansion testing, liquid biopsy, proteomics or metabolomics.

NCBI GTR currently lists multiple tests in which HMX1 is included.[36]

10.3 Variant interpretation

Use ACMG/AMP criteria with attention to:

• PVS1 for appropriate null alleles in a gene where loss of function is established;
• PM2 for absence/extreme rarity in population databases;
• PM3 for occurrence in trans with another pathogenic allele;
• PP1 for cosegregation;
• PP4 for the highly specific eye-plus-external-ear phenotype;
• PS3 only where a validated functional assay demonstrates damaging effect.

10.4 Differential diagnosis

There are no universally adopted formal diagnostic criteria. Molecular confirmation is strongly preferred.

10.5 Screening

OAS is not included in population newborn biochemical screening. Appropriate targeted approaches are:

• ophthalmic examination of newborns with microphthalmia, cataract or dysplastic ears;
• cascade testing of adult relatives after the familial variant is identified;
• carrier testing for reproductive partners in known families;
• prenatal or preimplantation testing when both familial pathogenic alleles are known.

11. Outcomes and prognosis

11.1 Survival

No disease-specific reduction in life expectancy or increased mortality has been demonstrated. Five- or ten-year survival statistics are unavailable. OAS is not known to cause cardiac, respiratory, renal, immune or metabolic failure.

11.2 Visual prognosis and morbidity

Visual prognosis is often guarded because multiple mechanisms coexist:

• congenital globe and anterior-segment malformation,
• cataract and deprivation amblyopia,
• optic-disc or retinal coloboma,
• macular hypoplasia,
• glaucoma, and
• progressive rod-cone degeneration.

Cataract surgery can improve media clarity but cannot reverse retinal dystrophy, macular hypoplasia, coloboma or severe microphthalmia. The University of Arizona resource accordingly cautions that permanent visual rehabilitation may remain limited because retinal dystrophy is progressive.[16]

11.3 Prognostic factors

Likely adverse factors include:

• severe microphthalmia;
• bilateral dense congenital cataract;
• central retinal or optic-disc coloboma;
• macular hypoplasia;
• markedly reduced early ERG responses;
• glaucoma or corneal opacity;
• delayed access to amblyopia treatment and low-vision services.

No validated molecular prognostic biomarker or genotype–phenotype model exists.

12. Treatment

There is no approved disease-modifying, gene, RNA or cell therapy for HMX1-related OAS. Treatment is individualized and multidisciplinary.

No OAS-specific drug, pharmacogenomic recommendation, immunotherapy, targeted small molecule, ASO, CRISPR product or registered interventional trial with an established efficacy signal was identified.

Potential future approaches include HMX1 gene replacement or cell-targeted developmental-pathway manipulation, but prenatal developmental malformations would be difficult to reverse after birth. Retinal rescue could theoretically remain relevant if ongoing degeneration depends on persistent HMX1 deficiency; this has not yet been demonstrated.

13. Prevention

Primary prevention

No vaccine, diet, supplement, or lifestyle intervention prevents genetically determined OAS. In known families, reproductive options include:

• preconception carrier testing;
• testing the reproductive partner;
• preimplantation genetic testing for monogenic disease;
• chorionic-villus sampling or amniocentesis for the familial variants;
• donor gametes or other reproductive alternatives.

Secondary prevention

• Early recognition of congenital cataract and glaucoma;
• early genetic testing of infants with the characteristic phenotype;
• cascade testing of siblings and relatives;
• prompt visual assessment and amblyopia prevention.

Tertiary prevention

• Lifelong glaucoma monitoring;
• retinal surveillance;
• low-vision and orientation/mobility rehabilitation;
• educational and occupational accommodation;
• eye protection and prompt management of painful pressure elevation;
• psychosocial and reconstructive support for ear malformation.

Population-wide carrier or newborn genetic screening is not justified by current prevalence and evidence. There is no relevant immunization or antimicrobial prophylaxis.

14. Other species and naturally occurring disease

There is no zoonotic transmission, pathogen reservoir, or cross-species contagious susceptibility.

15. Model organisms

15.1 Mouse

Two curated mouse OAS models are:

• Hmx1^mpe/Hmx1^mpe
• Hmx1^dmbo/Hmx1^dmbo

MGI reports low-set/laterally protruding ears, reduced body mass, microphthalmia, mild cranial defects, and, in some backgrounds, perinatal semilethality or exencephaly.[23][44]

Strengths

• Mammalian auricular and craniofacial anatomy;
• endogenous Hmx1 developmental expression;
• recapitulation of external-ear and small-eye phenotypes;
• study of neural-crest and sensory-neuron development.

Limitations

• Human retinal dystrophy, cataract and complex anterior-segment dysgenesis are incompletely reproduced;
• background-dependent lethality and exencephaly are not typical human OAS manifestations;
• murine ocular phenotypes may be substantially milder or anatomically different. The mouse literature notes that human defects are extensive whereas mouse ocular defects can be largely restricted to microphthalmia.[130]

15.2 Zebrafish

Zebrafish models include morpholino knockdown, mutant lines and transgenic overexpression systems.

Recapitulated features

• microphthalmia;
• delayed/absent retinal stratification;
• delayed retinal-progenitor cell-cycle exit;
• increased retinal apoptosis;
• abnormal retinogenesis and regional patterning.

The original study reported microphthalmia in all injected embryos, with delayed retinal stratification in 73% and absent stratification in 27%, although morpholino-specific artifacts and dose effects must be considered.[84]

Applications

• live imaging of eye development;
• testing HMX1 dimerization and nuclear localization;
• analysis of EPHA6/epha4b regulation;
• developmental transcriptomics;
• rapid in-vivo testing of candidate variants;
• small-molecule modifier screens.

Limitations

• external-ear anatomy is not directly homologous to the human pinna;
• morpholino phenotypes require genetic validation;
• larval findings do not fully model decades-long human retinal degeneration.

15.3 In-vitro systems

Promoter assays and transfected-cell experiments have shown that HMX1 dimerizes, requires the SD1/homeodomain for dimerization, and represses EPHA6. These systems establish molecular function but do not reproduce tissue morphogenesis.[78]

No well-characterized patient-derived iPSC, retinal organoid, auricular-cartilage organoid, or CRISPR-corrected isogenic OAS model has yet become a standard resource.

Recent developments and research priorities

Important recent findings

1. 2022: a fourth family with two affected siblings and a new homozygous nonsense HMX1 variant was reported; PMID: 35946463, publication 10 August/October 2022.[135]
2. 2023–2024: no major OAS-specific clinical trial, natural-history cohort or disease-modifying study was identified. Research during this interval remained dominated by broader eye/ear developmental genetics rather than OAS-specific patient studies.
3. January 2026: an Egyptian cohort identified homozygous c.570_571del, p.(Glu191Argfs*34) in a child described as the fifth family; developmental delay and abnormal gait broadened the possible phenotype, although causality for those neurologic features remains uncertain.[145]
4. July 2026: another case report identified c.233_251dup, p.(Ala85Argfs*53), further supporting loss of function as the main mechanism.[5]
5. HMX1 enhancer research has established that noncoding dosage changes can cause isolated bilateral microtia, emphasizing that coding loss and enhancer gain/dysregulation can generate different phenotypes.[41]

Highest-priority knowledge gaps

• International registry and standardized natural-history data;
• patient-level phenotype tables with visual acuity, ERG and retinal-imaging trajectories;
• complete, transcript-normalized allelic catalog with ClinVar expert curation;
• penetrance and genotype–phenotype analysis;
• patient-derived retinal and auricular organoids;
• single-cell and spatial profiling of HMX1-expressing embryonic tissues;
• identification of direct transcriptional targets beyond EPHA6 and UHRF1;
• testing whether postnatal HMX1 restoration can slow retinal degeneration;
• validated patient-reported visual-function and quality-of-life measures.

Overall evidence assessment

The HMX1–OAS gene–disease relationship is strong, supported by segregation in multiple independent consanguineous families, consistent biallelic variants, functional impairment, developmental expression, and concordant mouse and zebrafish phenotypes. Nevertheless, estimates of phenotype frequency, penetrance, prognosis and treatment outcome remain low-certainty because the clinical literature consists almost entirely of isolated families and case reports rather than cohorts.

Reference Validation

Checked with linkml-reference-validator 0.3.0.

References that may not be about this subject

These identifiers resolve, so they are not fabrications, but the records they resolve to share almost none of this report's vocabulary. That is a clue and not a verdict - a paper can be relevant in ways its title and abstract do not spell out - so read them before deciding:

• PMC:PMC5123892 (1 mention) - Genetic Advances in the Understanding of Microtia.
• shared terms: genetic, ear

Weighed against this report's own most characteristic terms: retinal, hmx1, oas, phenotype, variant, microphthalmia, cataract, disease, developmental, gene, eye, malformation, established, loss, congenital, biallelic, genetic, ear, coloboma, visual.

All extracted references resolved successfully. Resolving is not the same as being relevant, though - see the references listed above as possibly off topic.

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:

• DOID:0060482 (1 mention) - the report calls it "Disease Ontology"; DOID calls it oculoauricular syndrome
• HP:0000568 (1 mention) - the report calls it "Reduced visual potential, cosmetic and orbital-development effects"; HP calls it Microphthalmia
• HP:0000482 (1 mention) - the report calls it "Complicates surgery and refraction"; HP calls it Microcornea
• HP:0007700 (1 mention) - the report calls it "Risk of corneal opacity, glaucoma and impaired vision"; HP calls it Ocular anterior segment dysgenesis
• HP:0012376 (1 mention) - the report calls it "Contributes to refractive and surgical complexity"; HP calls it Microphakia
• HP:0000510 (1 mention) - the report calls it "Night blindness, field constriction and progressive visual disability"; HP calls it Rod-cone dystrophy
• HP:0001104 (1 mention) - the report calls it "Poor central acuity"; HP calls it Macular hypoplasia
• HP:0000639 (1 mention) - the report calls it "Impaired fixation and acuity"; HP calls it Nystagmus
• HP:0000356 (1 mention) - the report calls it "Primarily cosmetic; may affect device fitting"; HP calls it Abnormality of the outer ear

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, MGI.