Brachydactyly Type E2
Disease ID: disease_node_15748
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| Dbxref | MIM:613382 |
|---|---|
| Subclassof | DOID_0050581 |
| Data Source | DOID |
| Synonyms | BDE2 |
| Doid Label | brachydactyly type E2 |
| Doid Description | A characterized byautosomal domit 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. |
| Disease Node Id | disease_node_15748 |
| Doid Id | DOID_0110976 |
| Label | Brachydactyly Type E2 |
- Outgoing r'ship
SUBCLASS_OFto/from Brachydactyly(ID:disease_node_12666) (Disease)