BabelNet

bn:00065385n

Noun Concept

Categories: All articles needing additional references, Autosomal recessive disorders, Articles with short description, Lysosomal storage diseases, Rare diseases

pycnodysostosis PKND Pycd Pyknodysostosis Toulouse-Lautrec Syndrome

A form of dwarfism accompanied by fragile bones and bad teeth WordNet 3.0

Definitions

Relations

Sources

A form of dwarfism accompanied by fragile bones and bad teeth WordNet 3.0 & Open English WordNet

Pycnodysostosis, is a lysosomal storage disease of the bone caused by a mutation in the gene that codes the enzyme cathepsin K. It is also known as PKND and PYCD. Wikipedia

Osteochondrodysplasia that has material basis in a mutation in the CTSK gene which results in dwarfism, brittle bones, osteopetrosis, shortening of the distal phalanges Wikidata

A genetic disorder characterized by dense, fragile bones and dwarfism. Wiktionary

IS A

dwarfism

rare disease

genetic disease

osteochondrodysplasia

GENETIC ASSOCIATION

cathepsin K

HAS PHENOTYPE

osteopetrosis

dwarfism

HEALTH SPECIALTY