mgijax / mammalian-phenotype-ontology

Standard terms for annotating mammalian phenotypic data
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chondrodystrophy #4026

Open sbello opened 2 months ago

sbello commented 2 months ago

arising from #4024 chondrodystrophy (MP:0002657) definition 'abnormal development of the cartilage primordia of long bones, resulting in abnormally short extremities but normal head and trunk' has chondrodysplasia as an exact synonym but many sources indicate these are not the same thing

Does the current definition actually fit chondrodystrophy?

from http://www.animalabs.com/shop/dogs/inherited-diseases-dogs/chondrodystrophy-chondrodysplasia-canine/ 'Chondrodystrophy in dogs is a common trait identified in many dogs’ breeds, characterized by shortened length of the limbs, which is a result of early changes in the structure of growth plates. The short-legged phenotype is known by two names: chondrodystrophy and chondrodysplasia. Chondrodysplasia is also known as canine dwarfism. Word ”chondro” come from cartilage, and ”dysplasia” means an abnormal growth, while word ”dystrophy” means degeneration of the tissue, in this case, of the cartilage. '

https://genocan.eu/product/chondrodysplasia/ Chondrodysplasia (CDPA) is a genetic disease causing abnormal growth of cartilage and early changes in the structure of growth plates. The affected dogs are generally characterized by a normal sized trunk and short limbs. Dogs with chondrodysplasia (CDPA) have short legs; this phenotype is characteristic for many breeds such as Welsh Corgi and Dachshund. Chondrodystrophy (CDDY) is caused by a separate mutation, also includes a short-legged phenotype as well as abnormal premature degeneration of intervertebral discs leading to susceptibility to intervertebral disc herniation (IVDD).

https://vgl.ucdavis.edu/test/cddy-cdpa Dogs with chondrodysplasia (CDPA) have short legs; this phenotype is characteristic of many breeds such as Corgis and Dachshunds. Chondrodystrophy (CDDY), caused by a separate mutation, also includes a short-legged phenotype as well as abnormal premature degeneration of intervertebral discs (also referred to as intervertebral disc disease, IVDD).

anna-anagnostop commented 2 months ago

See also PMID: 32793650, under “Short Limbed” Dogs and IVDD

"Terminology applied to skeletal dysplasia subgroups can be confusing; the term chondrodysplasia covers a broad group of skeletal dysplasia disorders in humans with abnormal development of the endochondral components of the skeletal system (present at birth) and has been used to describe extreme differences in limb length in several dog breeds, such as the Basset Hound, Dachshund, and Pekingese (14). Historically, the term chondrodystrophy has been applied as a more general terminology to include terms such as chondrodysplasia. In the veterinary literature it has come to be used as a term describing “short limbed” dogs with skeletal dysplasia that additionally have progressive degeneration of the intervertebral disc after birth, with the progressive nature of the IVDD informing the use of the term “dystrophy” (4, 5, 17). While the genetic alterations listed above have all been associated with altered limb length, only the overexpression of FGF4 secondary to retrogene insertion on CFA12 has also been specifically associated with premature degeneration of the intervertebral disc (13)."

anna-anagnostop commented 2 months ago

Also note that, currently, chondrodysplasia is used as a related synonym of chondrodystrophy (MP:0002657) @anna-anagnostop Yes, I changed the synonm from exact to related last week.