Metadata | |
---|---|
ID | DOID:0050788 |
Name | proximal symphalangism |
Definition | A syndrome that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness. https://bmcmedgenet.biomedcentral.com/articles/10.1186/s12881-019-0864-1 |
Xrefs |
KEGG:H00484 |
Subsets |
DO_rare_slim |
Synonyms |
Cushing's symphalangism [EXACT] |
Parent Relationships |
is_a autosomal dominant disease is_a syndrome is_a bone disease |
Subclass Logical Relationships |
disease has location some bone element has material basis in some autosomal dominant inheritance |