Genetic Diseases and Disorders Codexery — Data & Quality

We publish our audit record because accuracy claims should be checkable. Every entry on this site runs through an automated fact-audit pipeline (accuracy audit → source-grounded repair → visual QA); this page is generated from that pipeline's own report, not written by hand.

Last full accuracy audit: 2026-09-08 · 31 entries checked · 13 flagged · 33 issues confirmed · 13 corrected · 20 still open

Recent findings (audit lane, verbatim)

Genetic disorder — The claim that 'About 65% of people have some health problem as a result of congenital genetic mutations' is factually incorrect; the correct statistic is that about 65% of people have some health problem with a genetic component at some point in their lives,

Genetic disorder — The claim that 'Most genetic disorders are rare in themselves, with around 4.76% of people affected by a disorder classified as rare' is imprecise; the commonly accepted range is 3.5% to 6%, and 4.76% is not a standard, widely-cited figure.

Acromesomelic dysplasia — The entry states AMD is caused by mutations in one of five different genes, but the widely-known canon identifies only four main types and typically three genes (NPR2, GDF5, BMPR1B) for the main types, not five.

Acromesomelic dysplasia — The 'earliest_known_case' is listed as 'Late Upper Paleolithic,' but this is an invented claim with no established canon or widely-known historical evidence; no specific archaeological case is recognized in standard medical literature.

AFF2 — The claim that AFF2 mutations are implicated in breast cancer is not supported by established canon; AFF2 is associated with FRAXE intellectual disability, not breast cancer.

AFF2 — The statement that FRAXE is 'one of the most common forms of non-syndromic X-linked intellectual disability' is misleading; FRAXE is a rare form, not among the most common.

Aicardi–Goutières syndrome — The entry lists OCLN as an AGS gene, but OCLN is not a recognized AGS gene; the nine established AGS genes are TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, IFIH1, LSM11, and RNU7-1.

Aicardi–Goutières syndrome — The entry omits LSM11 and RNU7-1, which are established AGS genes.

Alternating hemiplegia — The entry conflates alternating hemiplegia of childhood with brainstem stroke syndromes (Weber's, Foville's, medial medullary), which are distinct conditions with different causes and symptoms.

Alternating hemiplegia — The statement that alternating hemiplegia encompasses Weber's, Foville's, and medial medullary syndromes is factually incorrect; those are brainstem stroke syndromes, not forms of alternating hemiplegia of childhood.

Alternating hemiplegia of childhood — The entry states that hemiplegic attacks 'cease completely with sleep' and 'cease immediately upon sleep,' but established medical literature describes that attacks typically resolve during sleep but may recur upon waking, not that they cease completely in the

Alternating hemiplegia of childhood — The entry claims 'other symptoms average 2.5 months' under STATS, but this specific numerical average is not established in authoritative references like Orphanet or GeneReviews, which note that other paroxysmal symptoms can appear within days of birth.

Autophagic vacuolar myopathy — Pompe disease is not classified as an autophagic vacuolar myopathy in the same group as Danon disease and XMEA; it is a lysosomal storage disorder caused by GAA deficiency, and while it involves autophagic buildup, it is not typically listed among the five typ

Autophagic vacuolar myopathy — As of 2019, the five types of AVM are generally recognized as Danon disease, X-linked myopathy with excessive autophagy (XMEA), infantile autophagic vacuolar myopathy, adult-onset autophagic vacuolar myopathy with multiorgan involvement, and sometimes a fifth

Autosomal dominant partial epilepsy with auditory features — The entry states that RELN is an associated gene for ADPEAF and that multiple factors are usually involved, but ADPEAF is canonically associated primarily with LGI1 mutations, RELN is linked to a different disorder, and the condition is not typically described

Open data

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Corrections

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