Each page covers one condition properly: what it actually is and what it feels like, what causes it, how common it really is and in whom, and how it's diagnosed — followed by the specific variants with a replicated link to it, and, where the research supports it, how genetics can change the way a medicine behaves.
Written in two registers so one page serves both readers: plain language first, then a clinical detail section with the precise terminology, effect sizes and diagnostic thresholds. Every claim is sourced from freely-available published research and cited on the page, so you can check us — or hand the page to your doctor. 385 conditions so far, growing continuously, and free to reuse with attribution (CC BY 4.0).
5 results in Developmental
Stuttering runs in families, and until 2025 almost none of its genetics had been mapped. A study of more than one million people found 57 loci — and a genetic overlap with autism, depression and the ability to keep a musical beat. 18 of its positions are in this catalogue.
Read more → DevelopmentalA 2025 study of 2,268 children with orofacial clefts asked whether the cleft subtypes share their genetics — the answer was "partly": 27 risk regions, some shared, some specific to one subtype, three pulling in opposite directions.
Read more → DevelopmentalOne of the most common congenital malformations of the male genitalia, corrected surgically in infancy. One gene, found in the field's first GWAS, has an unusually large effect for a common condition; eighteen more loci together explain a modest share of the rest.
Read more → DevelopmentalA congenital disorder in which part of the bowel never develops the nerve cells that let it relax. RET is the well-established gene, and this page holds a common variant in it alongside two more from a gene, NRG1, that a genome-wide scan found by accident.
Read more → DevelopmentalOne of the most common birth differences in the world, and the locus that carries the most risk has two candidate causal variants — with the evidence for which one matters depending on which population you ask.
Read more →One diagnosed condition or measurable trait covered properly: what it actually is, what causes it, how common it is, how it is diagnosed, and the specific variants with a replicated link to it — every claim sourced from published research.
No. Every page here is informational, not a diagnosis. A result should be discussed with a doctor or a licensed genetic counselor, never acted on alone.
Because they are not disorders. Height, ABO blood group and a handful of others describe a measurable characteristic with nothing to diagnose — "Trait" says so plainly instead of implying a disease that is not one.
Only after a replicated association in published research, verified against the primary study rather than a gene name or a marketing claim — the same discipline the variant pages themselves follow.