Rare diseases · Sign or symptom

Abnormality of the distal phalanx of the thumb

Abnormality of the outermost bone of the thumb

HP:0009617

What it means

Any anomaly of the distal phalanx of thumb.

Rare diseases that can present with this1

The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.

Part of the broader category

Also called: Abnormality of terminal thumb phalanx

Abnormality of the distal phalanx of the…

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This page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.