Terminology Service for NFDI4Health
Pseudoachondroplasia
Go to external page
http://purl.obolibrary.org/obo/NCIT_C118635
A rare, autosomal dominant inherited disorder caused by mutations in the COMP gene. It is characterized by short stature, short arms and legs, waddling walk, osteoarthritis, and limited range of motion at the elbows and hips. [ ]
Term info
Label
Pseudoachondroplasia
Synonyms
- Pseudoachondroplasia
Preferred Name
Pseudoachondroplasia
Semantic Type
Disease or Syndrome
UMLS CUI
C0410538
code
C118635