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
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Start free with EleplanThis 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.