| Metadata | |
|---|---|
| ID | DOID:0110976 |
| Name | brachydactyly type E2 |
| Definition | A characterized byautosomal dominant inheritance of short stature, tooth abnormalities, and short metacarpals and metatarsals that has_material_basis_in heterozygous mutation in the PTHLH gene on chromosome 12p. https://www.ncbi.nlm.nih.gov/pubmed/20015959, https://www.ncbi.nlm.nih.gov/pubmed/20170896 |
| Xrefs | |
| Synonyms |
BDE2 [EXACT] |
| Parent Relationships |
is_a brachydactyly |