| Metadata | |
|---|---|
| ID | DOID:0111564 |
| Name | hypoplastic or aplastic tibia with polydactyly |
| Definition | A syndrome characterized by preaxial polydactyly of the hands and feet and hypoplasia or aplasia of the tibia that has_material_basis_in heterozygous mutation in the SHH regulatory region (ZRS) located in intron 5 of the LMBR1 gene on chromosome 7q36.3. https://www.ncbi.nlm.nih.gov/pubmed/19847792 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
absence of tibia with polydactyly [EXACT] absent tibia-polydactyly syndrome [EXACT] hypoplastic tibiae-postaxial polydactyly syndrome [EXACT] tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome [EXACT] Werner mesomelic syndrome [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |