Metadata | |
---|---|
ID | DOID:0112303 |
Name | spondylometaphyseal dysplasia with corneal dystrophy |
Definition | A spondylometaphyseal dysplasia characterized by spondylometaphyseal dysplasia and corneal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the PLCB3 gene on chromosome 11q13.1. https://pubmed.ncbi.nlm.nih.gov/29122926/ |
Xrefs | |
Synonyms |
SMDCD [EXACT] |
Parent Relationships |