Disease association ontology term - MONDO:0008972 - rhizomelic chondrodysplasia punctata type 1
Term summary
- ID
- MONDO:0008972
- Name
- rhizomelic chondrodysplasia punctata type 1
- Ontology or CV name
- Disease association
- Definition
- A condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems. The condition is caused by mutations in the PEX7 gene. It is inherited in an autosomal recessive pattern. Rhizomelic chondrodysplasia punctata type 1 is one of five types of rhizomelic chondrodysplasia punctata. The types have similar features and are distinguished by their genetic cause.
