| Metadata | |
|---|---|
| ID | DOID:0112299 |
| Name | axial spondylometaphyseal dysplasia |
| Definition | A spondylometaphyseal dysplasia characterized by postnatal growth failure, metaphyseal changes of truncal-juxtatruncal bones, and retinal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP410 gene on chromosome 21q22.3. https://pubmed.ncbi.nlm.nih.gov/21910225/, https://pubmed.ncbi.nlm.nih.gov/26167768/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:771301002 |
| Subsets |
DO_rare_slim |
| Synonyms |
SMD axial [EXACT] SMDAX [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |