pnrobinson
commented
6 days ago @lisannesw adding term for now, in the next round we can add children Adding new term:
- ID: HP:6000818
- label: Transverse terminal limb defect
- parents: Abnormality of limbs (HP:0040064)
- pmid: PMID:34263545
- def: A congenital anomaly that appears as an amputation at different levels of the extremity. The limb is missing the terminal (distal) segment(s), with preservation of all the segment(s) proximal to the missing segment.
- comment:
- orcid: orcid:0000-0002-0736-9199
- github ID: https://github.com/obophenotype/human-phenotype-ontology/issues/10479
- synonyms: Transverse terminal limb reduction(NONE)
Preferred term label: Transverse terminal limb defect
Synonyms Transverse terminal limb reduction
Definition (free text, please give PubMed ID) A congenital anomaly that appears as an “amputation” at different levels of the extremity. The limb is missing the terminal (distal) segment(s), with preservation of all the segment(s) proximal to the missing segment. PMID: 34263545
Parent term (use hpo.jax.org/app) Abnormality of limbs HP:0040064
Diseases characterized by this term ? (e.g. Orphanet or OMIM number) Adams-Oliver syndrome (OMIM100300)
Your nano-attribution (ORCID) A. Zankl 0000-0001-8612-1062, @azankl L. Wit 0009-0007-1020-5412
This term would be the parent term of transverse terminal upper limb defect and transverse terminal lower limb defect. These terms will be then splitted into the level of 'amputation' based on the classification system of Frantz and O’Rahilly (Frantz, C. H., and Ronan O'Rahilly, Congenital skeletal limb deficiencies, J. Bone & Joint Surg., Boston, 43A:1202-1224, December 1961.) I sketched the tree structure below: