SCUBE3-Related Short Stature Syndrome (SSFSC2): Comprehensive Disease Characterization

Disease: SCUBE3-Related Short Stature Syndrome Formal name: Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 (SSFSC2) MONDO: MONDO:0030953 · OMIM: 619184 · Category: Mendelian (autosomal recessive) Date compiled: 2026-09-05

Summary

SCUBE3-Related Short Stature Syndrome (SSFSC2) is an ultra-rare, autosomal-recessive Mendelian disorder caused by biallelic loss-of-function variants in SCUBE3 (Signal peptide-CUB-EGF domain-containing protein 3; HGNC:23310, NCBIGene:222663, chromosome 6p21.31, UniProt Q8IX30). The disorder was first defined as a discrete clinical entity by Lin and colleagues in 2021, who described 18 affected individuals from 9 unrelated families sharing a consistent phenotype of reduced growth, skeletal features, a distinctive craniofacial appearance, and dental anomalies (PMID: 33308444). As of 2025, approximately 20 patients from around 10 families have been reported worldwide (PMID: 40331102).

Mechanistically, SCUBE3 is a secreted/cell-surface-anchored glycoprotein that functions as a co-receptor for bone morphogenetic proteins BMP2/BMP4, recruiting BMP receptor complexes into lipid-raft microdomains and augmenting BMP–BMP type I receptor interactions. It also modulates TGF-β (via SMAD2/3), FGF, and Hedgehog signaling. Biallelic loss-of-function impairs transcript processing, protein secretion, and co-receptor function, dysregulating BMP signaling. Because BMP-mediated chondrogenesis and osteogenesis are essential for endochondral bone formation at the growth plate, SCUBE3 deficiency produces prenatal-onset short stature and skeletal/craniofacial/dental abnormalities. The Scube3⁻/⁻ knockout mouse faithfully recapitulates the human disorder, exhibiting craniofacial and dental defects, reduced body size, and defective endochondral bone growth due to impaired BMP-mediated chondrogenesis and osteogenesis (PMID: 33308444).

Clinically, the syndrome is non-lethal with generally normal cognition and normal life expectancy. Diagnosis is molecular—recognition of the clinical gestalt followed by exome/genome sequencing or a short-stature/skeletal-dysplasia gene panel. There is no disease-modifying therapy; management is supportive and multidisciplinary (orthopedic/spinal, dental/orthodontic, cardiac surveillance, growth monitoring). The GH/IGF-1 axis is typically normal, so the growth failure reflects a local growth-plate BMP-signaling defect rather than classic growth-hormone deficiency.

Section 1 — Disease Information

Overview. SSFSC2 is a syndromic short-stature disorder of prenatal onset combining growth retardation, a recognizable craniofacial gestalt (long/triangular face, high forehead, long nose, small pointed chin), skeletal anomalies (brachydactyly, short long bones, scoliosis, 11 rib pairs), and dental anomalies (crowding, enamel defects), typically with preserved cognition (PMID: 33308444).

Key identifiers.

Synonyms / alternative names: Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 (SSFSC2); SCUBE3-related short stature syndrome; SCUBE3-related developmental disorder; SCUBE3 deficiency. Gene aliases: SCUBE3, CEGF3.

Data source type: Information is derived from aggregated disease-level resources (OMIM, MONDO, HPO annotations) built on individual-patient case series from the primary literature; there is no large EHR-derived dataset for this ultra-rare condition. No dedicated Orphanet ORPHA code or MeSH term has been identified; MONDO:0030953 / OMIM:619184 are the canonical entries.

Section 2 — Etiology

Primary cause: Purely genetic—biallelic (homozygous or compound heterozygous) loss-of-function variants in SCUBE3. There is no environmental, infectious, or multifactorial component; this is a monogenic germline disorder (PMID: 33308444).

"bi-allelic inactivating variants in SCUBE3 have pleiotropic consequences on development and cause a previously unrecognized syndromic disorder. Eighteen affected individuals from nine unrelated families showed a consistent phenotype characterized by reduced growth, skeletal features, distinctive craniofacial appearance, and dental anomalies." — PMID: 33308444

Genetic risk factors: The causal variants are inactivating SCUBE3 alleles (nonsense, canonical splice-site, exon-skipping deletions, and functionally validated missense variants). Consanguinity is a major driver, with homozygous variants reported in Turkish, Iranian, Saudi/Emirati, Indian, Israeli, and Brazilian families. No modifier genes have been established.

Environmental risk factors / protective factors / gene-environment interactions: None known or applicable. No lifestyle, occupational, toxic, or dietary factors have been implicated, and no protective alleles or environmental protective factors are reported.

Section 3 — Phenotypes

Phenotype frequencies below are drawn from HPO disease annotations for OMIM:619184, sourced from the founding cohort (~15 evaluable individuals; PMID: 33308444). The phenotype is prenatal-onset, non-progressive in its core growth deficit, and of variable expressivity.

"Eighteen affected individuals from nine unrelated families showed a consistent phenotype characterized by reduced growth, skeletal features, distinctive craniofacial appearance, and dental anomalies." — Lin et al. 2021

Key clinical points: - Cognition is usually normal (developmental delay/intellectual disability each ~7%), an important distinguishing feature. - Cardiac anomalies are variable (ASD, arrhythmia, patent foramen ovale)—hence "with or without cardiac anomalies" in the disease name. - Occasional/rare features: joint hypermobility or stiffness, nystagmus/strabismus/astigmatism, hypotonia, cleft palate, hypospadias, tracheobronchomalacia, bicoronal craniosynostosis, oropharyngeal dysphagia. The expanded ocular/skeletal spectrum (high-arched eyebrows, epicanthus, blepharoptosis, hypotelorism, radial bowing, irregular vertebral endplates, narrow iliac wings) was added by PMID: 40331102.

Severity/progression: Short stature is congenital and stable rather than progressive; scoliosis may progress and requires surveillance. Quality-of-life impact derives chiefly from short stature, skeletal (spinal) issues, and dental problems; disease-specific QoL instrument data (EQ-5D/SF-36/PROMIS) are not available.

Section 4 — Genetic / Molecular Information

Causal gene: SCUBE3 (HGNC:23310, NCBIGene:222663, 6p21.31, transcript NM_152753.4).

Pathogenic variant spectrum. ClinVar (accessed 2026) lists ~13 Pathogenic + 1 Pathogenic/Likely-pathogenic + 1 Likely-pathogenic SCUBE3 records among ~184 total (63 VUS, 4 benign/LB). Disease-associated variants converge on loss of function:

Contiguous-gene 6p21 CNV deletions (e.g., chr6:34.4–38.4 Mb) have also been reported (with severe IUGR). All variants are germline.

Functional consequences. In vitro validation showed variants variably impair transcript processing, protein secretion, and function, dysregulating BMP signaling:

"In vitro functional validation studies demonstrated a variable impact of disease-causing variants on transcript processing, protein secretion and function, and their dysregulating effect on bone morphogenetic protein (BMP) signaling." — PMID: 33308444

Population constraint (gnomAD, ENSG00000146197): pLI = 1.0; LOEUF (oe_lof_upper) = 0.378; oe_lof = 0.283 (33 observed vs 117 expected LoF); missense Z = 3.72. The gene is strongly constrained yet tolerant of heterozygous LoF alleles at low frequency—consistent with rare recessive carriers. No founder mutation established.

Modifier genes / epigenetics: No modifier genes or disease-specific epigenetic mechanisms have been reported. Chromosomal abnormalities: the contiguous-gene 6p21 microdeletions noted above.

Section 5 — Environmental Information

Not applicable. SSFSC2 is a monogenic germline disorder with no known environmental, lifestyle, or infectious contributors. No toxins, radiation, occupational exposures, dietary factors, or pathogens are implicated.

Section 6 — Mechanism / Pathophysiology

Ordered causal chain

1. Biallelic loss-of-function SCUBE3 variants (nonsense, splice, exon-skip, or destabilizing missense) → reduced/absent functional SCUBE3 protein, either through nonsense-mediated decay, impaired transcript processing, or defective secretion of misfolded protein. (Demonstrated in vitro; PMID: 33308444.)
2. Destabilizing missense variants (e.g., p.Cys303Ser) → disruption of a critical disulfide bridge in the 7th EGF-like repeat, impairing protein stability and reducing secretion. (AlphaFold3 modeling; PMID: 40331102.)
3. Loss of cell-surface SCUBE3 co-receptor → failure to recruit BMP receptor complexes into lipid-raft microdomains and reduced augmentation of BMP–BMP type I receptor interactions → decreased BMP2/BMP4 signaling. (Demonstrated; PMID: 33308444.)
4. Reduced BMP signaling (and altered TGF-β/SMAD2-3 co-modulation) → impaired SMAD-mediated transcriptional output in growth-plate cells. (BMP branch demonstrated; TGF-β branch inferred from CUB-domain ligand activity, PMID: 21441952.)
5. Impaired chondrogenesis and osteogenesis at the endochondral growth plate → defective endochondral bone growth. (Demonstrated in Scube3⁻/⁻ mouse; PMID: 33308444.)
6. Branch A: growth-plate defect → prenatal-onset short stature, short long bones, brachydactyly, scoliosis, rib anomalies. Branch B: cranial neural-crest/dental mesenchyme BMP defect → distinctive craniofacial gestalt and dental anomalies. Branch C (variable): cardiac BMP signaling perturbation → septal defects / arrhythmia in a minority.

Detail

Molecular pathways. The core lesion is in the BMP2/BMP4 signaling pathway (SMAD1/5/8 branch), with SCUBE3 acting as a positive co-receptor:

"We show that SCUBE3 acts as a BMP2/BMP4 co-receptor, recruits the BMP receptor complexes into raft microdomains, and positively modulates signaling possibly by augmenting the specific interactions between BMPs and BMP type I receptors." — PMID: 33308444

SCUBE3 additionally acts as an endogenous TGF-β type II receptor ligand through its C-terminal CUB domain, inducing SMAD2/3 phosphorylation:

"bound to transforming growth factor-β (TGF-β) type II receptor through the C-terminal CUB domain, activated TGF-β signaling and triggered the epithelial-mesenchymal transition (EMT). This process includes the induction of Smad2/3 phosphorylation" — PMID: 21441952

Recombinant SCUBE3 boosts BMP2/TGF-β expression and drives osteogenic differentiation via SMAD phosphorylation in human bone-marrow mesenchymal stem cells, reinforcing its pro-osteogenic role (PMID: 39250278). SCUBE family members also participate in FGF (zebrafish muscle development) and Hedgehog signaling.

Protein dysfunction. SCUBE3 (~993 aa) has five modular domains:

"organized into five modular domains: (1) an N-terminal signal peptide sequence, (2) nine tandem epidermal growth factor (EGF)-like repeats, (3) a large spacer region, (4) three cysteine-rich (CR) motifs, and (5) a CUB domain at the C-terminus" — PMID: 37237303

The cysteine-rich, disulfide-stabilized EGF-like repeats are essential for folding and secretion; pathogenic missense variants that eliminate cysteines (Cys97Trp, Cys303Ser, Cys519Ter) destabilize the protein and reduce secretion. Structural modeling confirms this:

"Protein modeling using AlphaFold3 revealed disruption of a critical disulfide bridge within the seventh epidermal growth factor-like repeat, likely affecting protein stability." — PMID: 40331102

Cellular processes and cell types. Upstream: chondrocytes and osteoblasts of the endochondral growth plate; cranial neural-crest-derived mesenchyme; odontoblasts/dental mesenchyme. Downstream clinical manifestations follow from impaired proliferation/differentiation in these lineages. Suggested GO terms: BMP signaling pathway (GO:0030509), chondrocyte differentiation (GO:0002062), osteoblast differentiation (GO:0001649), endochondral ossification (GO:0001958), SMAD protein signal transduction (GO:0060395). Suggested CL terms: chondrocyte (CL:0000138), osteoblast (CL:0000062), odontoblast (CL:0000060), neural crest cell (CL:0000333).

Metabolic / immune / epigenetic involvement. No primary metabolic derangement, immune dysregulation, or epigenetic mechanism is part of the core disease; the single interesting metabolic observation is that recombinant SCUBE3 activates mitophagy and ameliorates oxidative stress during osteogenesis in vitro (PMID: 39250278), which is peripheral to the germline disease.

Section 7 — Anatomical Structures Affected

Organ / system level (primary): Skeletal system—long bones, vertebral column, ribs, hands (brachydactyly), skull/craniofacial skeleton. Endocrine-independent growth failure (GH/IGF-1 axis normal). Secondary/variable: cardiovascular system (atrial septal defect, PFO, arrhythmia); dentition; occasionally airway (tracheobronchomalacia), palate, and eyes.

Suggested UBERON terms: skeletal system (UBERON:0001434), endochondral bone (UBERON:0002513), epiphyseal growth plate (UBERON:0002332), long bone (UBERON:0002495), vertebral column (UBERON:0001130), rib (UBERON:0002228), skull (UBERON:0003129), tooth (UBERON:0001091), heart (UBERON:0000948), interatrial septum (UBERON:0002085).

Tissue / cell level: Connective tissue—cartilage (growth-plate chondrocytes) and bone (osteoblasts); dental mesenchyme/odontoblasts; cranial neural crest derivatives. CL terms as above.

Subcellular level: Secreted/cell-surface (plasma-membrane-associated) glycoprotein; biosynthetic defects implicate the endoplasmic reticulum (folding/secretion, GO:0005783) and extracellular space / lipid-raft plasma-membrane microdomains (GO:0045121) where SCUBE3 co-receptor function occurs.

Localization / lateralization: Skeletal and craniofacial involvement is bilateral and largely symmetric; scoliosis introduces axial asymmetry; cardiac defects are structural (septal).

Expression sites: primary osteoblasts, long bones, axial-skeleton cartilage, vascular endothelium, platelets, and mammary ductal epithelium (PMID: 37237303, PMID: 40331102).

Section 8 — Temporal Development

• Onset: Congenital / prenatal. Intrauterine growth retardation and antenatal onset are documented in the majority (8/11 each). Short stature is present from birth.
• Onset pattern: Chronic/insidious—a developmental, non-inflammatory process.
• Progression: The core growth deficit is stable (non-progressive) rather than degenerative; the child remains short-statured. Scoliosis may progress through childhood/adolescence and requires monitoring.
• Disease course: Lifelong, chronic, non-episodic, non-relapsing.
• Critical periods: The prenatal and childhood growth-plate windows are the period of vulnerability; there is no known therapeutic window that reverses the growth-plate signaling defect.
• Remission: None (genetic, structural condition).

Section 9 — Inheritance and Population

• Inheritance: Autosomal recessive (HP:0000007), fully penetrant in reported biallelic cases with variable expressivity (PMID: 33308444, PMID: 40331102). Most cases are homozygous; some are compound heterozygous.
• Epidemiology: Ultra-rare. ~20 patients from ~10 families reported worldwide as of 2025; no prevalence or incidence estimate exists.

"is a very rare genetic disorder caused by biallelic pathogenic variants in the SCUBE3 gene and has been reported in approximately 20 patients to date" — PMID: 40331102

• Consanguinity: A major driver—homozygous variants in Turkish, Iranian, Saudi/Emirati, Indian, Israeli, and Brazilian families.
• Carrier frequency: Rare; gnomAD shows only 33 heterozygous LoF alleles (LOEUF 0.38). No founder mutation.
• Penetrance / anticipation / mosaicism: Complete penetrance for biallelic genotypes; no genetic anticipation (not a repeat-expansion disorder); no germline mosaicism reported.
• Sex ratio: No sex bias; both sexes affected.
• Population demographics: No population-specific prevalence beyond enrichment in consanguineous populations; no established geographic clustering of specific variants.

Section 10 — Diagnostics

Diagnostic approach — molecular. Recognition of the clinical gestalt (prenatal-onset short stature + long/triangular face, high forehead, long nose, small pointed chin + brachydactyly + dental crowding/enamel defects with preserved cognition) followed by confirmation of biallelic SCUBE3 variants: - Whole-exome sequencing (WES) — the original discovery method; high yield (PMID: 33308444). - Whole-genome sequencing (WGS) — captures splice/structural variants. - Multigene short-stature / skeletal-dysplasia panels including SCUBE3; SCUBE3 now appears on SGA/short-stature panels (PMID: 41001785). - Single-gene testing once the phenotype is recognized. - Chromosomal microarray (CMA) — detects contiguous-gene 6p21 deletions.

Supportive workup: skeletal survey/radiographs (brachydactyly, short long bones, scoliosis, 11 rib pairs, narrow iliac wings, vertebral endplate irregularities); echocardiography (ASD/PFO); dental/orthodontic evaluation; ophthalmologic exam; hearing assessment. Endocrine (GH/IGF-1) axis is typically normal—this is not classic GH deficiency, and there is no specific biomarker.

Differential diagnosis: 3M syndrome, Silver-Russell syndrome, Floating-Harbor syndrome, other primordial/skeletal-dysplasia short-stature disorders, ACAN- and COL2A1-related short stature. Preserved cognition, the specific facial gestalt, and biallelic SCUBE3 findings distinguish SSFSC2.

Screening: Carrier/cascade testing in affected consanguineous families; prenatal/preimplantation genetic testing where the familial variants are known. No population newborn screening exists (ultra-rare).

Section 11 — Outcome / Prognosis

• Survival / mortality: Non-lethal; life expectancy is generally normal. No disease-specific mortality data reported.
• Morbidity / function: Principal morbidity is short stature, skeletal (scoliosis) and dental problems; cognition is generally preserved, so functional/educational outcomes are usually good.
• Quality of life: Impacted mainly by stature, orthopedic, and dental issues; no formal QoL instrument data available.
• Complications: Scoliosis progression, dental crowding/enamel defects requiring orthodontic care, occasional cardiac defects requiring follow-up, rare airway issues (tracheobronchomalacia).
• Prognostic factors: Severity is variable and not strongly predicted by a single factor; no validated prognostic biomarkers exist.

Section 12 — Treatment

No disease-modifying or targeted therapy exists. Management is supportive, multidisciplinary, and symptom-directed:

Important caveat: Because the growth failure reflects a local growth-plate BMP-signaling defect rather than GH deficiency, recombinant human growth hormone is of unproven benefit. No pharmacogenomic, gene-therapy, cell-therapy, RNA-based, immunotherapy, or clinical-trial (NCT) interventions are currently available for this indication.

Section 13 — Prevention

Primary prevention of the disease itself is not possible (germline monogenic). Relevant preventive/genetic measures: - Genetic counseling for at-risk consanguineous families (25% recurrence risk per pregnancy for carrier couples). - Carrier / cascade screening of relatives once familial variants are identified. - Prenatal diagnosis / preimplantation genetic testing for known familial variants. - Tertiary prevention (preventing complications): scoliosis surveillance, dental prophylaxis/orthodontics, cardiac follow-up. No immunization, behavioral, environmental, or public-health interventions are applicable.

Section 14 — Other Species / Natural Disease

• Taxonomy / orthologs: Highly conserved across vertebrates (PMID: 37237303). Mouse Scube3 (NCBIGene:268935, chr17), rat Scube3 (NCBIGene:294297), zebrafish scube3 (NCBIGene:100000687).
• Natural disease: No naturally occurring SCUBE3 disease reported in companion animals or wildlife (no OMIA entry). No breed-specific (VBO) associations.
• Comparative biology: Disease mechanism (BMP co-receptor function in skeletal development) is evolutionarily conserved, enabling faithful mouse and zebrafish modeling.
• Transmission: Not applicable—no zoonotic or infectious component.

Section 15 — Model Organisms

Model characteristics:

"Scube3⁻/⁻ mice showed craniofacial and dental defects, reduced body size, and defective endochondral bone growth due to impaired BMP-mediated chondrogenesis and osteogenesis, recapitulating the human disorder." — PMID: 33308444

"Scube3N294K/N294K mutants showed morphological abnormalities of the skeleton, alterations of parameters relevant for bone metabolism, changes in renal function, and hearing impairments." — PMID: 27815347

Applications: growth-plate BMP signaling, skeletal/craniofacial/dental development, bone metabolism. Limitations: the knockout captures core skeletal/craniofacial phenotypes but human variant-specific hypomorphic effects (variable secretion/function) and the human cognitive-sparing may not be fully modeled by null alleles.

Mechanistic Model / Interpretation

Biallelic LoF SCUBE3 variants
  (nonsense / splice / exon-skip / destabilizing missense)
│  NMD, impaired processing, misfolding (disulfide loss in EGF repeats)
▼
Reduced / non-functional secreted SCUBE3 co-receptor
│  fails to recruit BMP receptor complexes to lipid rafts;
│  loss of BMP–BMPR-I interaction augmentation
▼
Decreased BMP2/BMP4 signaling  ── (co-modulation) ── TGF-β/SMAD2/3, FGF, Hedgehog
│  reduced SMAD1/5/8 transcriptional output
▼
Impaired chondrogenesis + osteogenesis at the endochondral growth plate
│
├──► Branch A (skeleton): prenatal short stature, short long bones,
│                         brachydactyly, scoliosis, 11 rib pairs
├──► Branch B (craniofacial/dental): long triangular face, high forehead,
│                         long nose, pointed chin, dental crowding/enamel defects
└──► Branch C (variable): cardiac septal defects / arrhythmia

Upstream vs downstream: the mutation → protein loss → BMP co-receptor failure steps are upstream and directly demonstrated in vitro and in the mouse; the tissue-specific clinical branches are downstream and reflect the developmental requirement for BMP signaling in each lineage. The consistency between the in-vitro co-receptor data, the AlphaFold3 structural modeling, and the faithful Scube3⁻/⁻ mouse gives this causal chain strong internal coherence.

Evidence Base

All primary mechanistic and clinical claims here are human clinical (cohort/case reports) reinforced by model-organism (mouse, zebrafish) and in-vitro/computational (functional assays, AlphaFold3) evidence.

Limitations and Knowledge Gaps

• Small evidence base: ~20 patients worldwide; phenotype frequencies derive from a single founding cohort (~15 evaluable individuals). Frequencies are precise-looking but statistically fragile.
• No epidemiology: no prevalence/incidence estimate; no Orphanet ORPHA or MeSH term.
• No prognostic biomarkers and no natural-history/longitudinal cohort data (e.g., adult final height distributions, scoliosis progression rates).
• Genotype–phenotype correlations are not yet established (whether hypomorphic missense vs null alleles predict severity).
• GH therapy efficacy is untested rigorously—used empirically with unproven benefit.
• TGF-β/FGF/Hedgehog contributions to the human phenotype are inferred; only the BMP arm is directly demonstrated for the disease.
• Cognitive-sparing mechanism (why SCUBE3 loss largely spares cognition despite CNS expression) is unexplained.

Proposed Follow-up Experiments / Actions

1. Establish an international patient registry to capture natural history: final adult height, scoliosis progression, cardiac and dental outcomes, and QoL (SF-36/PROMIS).
2. Genotype–phenotype study correlating residual SCUBE3 secretion/function (per-variant in-vitro assays) with clinical severity to build a variant-effect map on NM_152753.4.
3. Controlled evaluation of recombinant GH (or, mechanistically, growth-plate-directed BMP-pathway modulation) in a small cohort, given the local BMP defect rationale.
4. Conditional/tissue-specific Scube3 mouse models (chondrocyte-, neural-crest-, cardiac-specific) to dissect the phenotype branches and test BMP-augmentation rescue.
5. Deep phenotyping of the cardiac and ocular spectrum to refine "with or without cardiac anomalies" penetrance estimates.
6. Structural/biochemical work on how missense EGF-repeat disulfide disruptions impair secretion, to identify potentially rescuable (chaperone-amenable) alleles.
7. Formal ClinGen/ACMG variant curation and gene-disease validity classification to standardize diagnostic reporting.

Report compiled from 10 confirmed findings across 5 investigation iterations. Evidence sources: human clinical cohorts/case reports, mouse and zebrafish model organisms, in-vitro functional assays, and computational structural modeling.

Artifacts

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Reference Validation

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All extracted references resolved successfully.

Term Validation

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Terms the report names something else

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

• MONDO:0030953 (3 mentions) - the report calls it "MONDO"; MONDO calls it short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2
• DOID:0112358 (1 mention) - the report calls it "DOID"; DOID calls it short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2

Unresolved terms

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

• UBERON:0002332 (1 mention) - UBERON 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:

• HP:0000007 (2 mentions) - the report calls it "Autosomal recessive", "Inheritance: Autosomal recessive"; HP calls it Autosomal recessive inheritance, and lists "Autosomal recessive" among its other names
• HP:0008897 (1 mention) - the report calls it "Postnatal growth retardation / short stature"; HP calls it Postnatal growth retardation
• GO:0045121 (1 mention) - the report calls it "extracellular space / lipid-raft plasma-membrane microdomains"; GO calls it membrane raft, and lists "glycolipid-enriched membrane domain" among its other names

Terms named inconsistently

The report gives these identifiers more than one name of its own:

• HP:0000007 - called "Autosomal recessive", "Inheritance: Autosomal recessive"

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: NCBIGene, OMIM.