MeSH Browser

MeSH Supplementary: Pseudoachondroplasia
Unique ID: C535819
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C535819
Entry Term(s): PSACH; Pseudoachondroplastic Spondyloepiphyseal Dysplasia Syndrome; Pseudoachondroplastic dysplasia; Pseudoachondroplastic spondyloepiphyseal dysplasia; Spondyloepiphyseal Dysplasia, Pseudoachondroplastic
Registry Number: 0
Heading Mapped to: *Achondroplasia
Frequency: 45
Note: A hereditary autosomal dominant form of achondroplasia characterized by dwarfism, lower limb abnormalities, BRACHYDACTYLY, loose joints, and ligamentous laxity. Vertebral anomalies usually resolve with age, but affected individuals develop severe OSTEOARTHRITIS. Muations in the COMP gene have been identified. OMIM: 177170
Indexing Information: Cartilage Oligomeric Matrix Protein
Date of Entry: 2010/08/25
Revision Date: 2015/08/18

Pseudoachondroplasia MeSH Supplementary Concept Data 2024