| Metadata | |
|---|---|
| ID | DOID:0111507 |
| Name | Lenz-Majewski hyperostotic dwarfism |
| Definition | A syndrome characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial, dental, cutaneous and distal-limb anomalies that has_material_basis_in heterozygous mutation in the PTDSS1 gene on chromosome 8q22.1. https://www.ncbi.nlm.nih.gov/pubmed/24241535 |
| Xrefs |
SNOMEDCT_US_2023_03_01:1393001 |
| Subsets |
DO_rare_slim |
| Synonyms |
Lenz-Majewski syndrome [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |