| Metadata | |
|---|---|
| ID | DOID:0111533 |
| Name | gnathodiaphyseal dysplasia |
| Definition | An osteochondrodysplasia characterized by cementoosseous lesions of the jawbones, bone fragility, bowing/cortical thickening of tubular bones, and diaphyseal sclerosis of long bones that has_material_basis_in heterozygous mutation in the ANO5 gene on chromosome 11p14.3. https://ghr.nlm.nih.gov/condition/gnathodiaphyseal-dysplasia, https://www.ncbi.nlm.nih.gov/pubmed/23047743, https://www.ncbi.nlm.nih.gov/pubmed/15124103 |
| Xrefs |
SNOMEDCT_US_2023_03_01:715568002 |
| Subsets |
DO_rare_slim |
| Synonyms |
GDD [EXACT] gnathodiaphyseal sclerosis [EXACT] Levin syndrome 2 [EXACT] osteogenesis imperfecta with unusual skeletal lesions [EXACT] osteogenesis imperfecta, Levin type [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |