Rare diseases · Sign or symptom
Transverse terminal lower limb defect
HP:6000946
What it means
A congenital anomaly that appears as an amputation at different levels of the leg, e.g. femur, foreleg, ankle or toe. The limb is missing the terminal (distal) segment(s), with preservation of all the segment(s) proximal to the missing segment.
Part of the broader category
Transverse terminal lower limb defect
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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.