| Metadata | |
|---|---|
| ID | DOID:0112283 |
| Name | spondyloepiphyseal dysplasia Kondo-Fu type |
| Definition | A spondyloepiphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the MBTPS1 gene on chromosome 16q23.3-q24.1. https://pubmed.ncbi.nlm.nih.gov/30046013/ |
| Xrefs | |
| Synonyms |
SED with elevated blood lysosomal enzymes [EXACT] SEDKF [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |