Frontometaphyseal Dysplasia 2
Disease ID: disease_node_15702
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| Dbxref | MIM:617137 |
|---|---|
| Subclassof | DOID_0050736, DOID_0111785 |
| Data Source | DOID |
| Synonyms | FMD2 |
| Doid Label | frontometaphyseal dysplasia 2 |
| Doid Description | A frontometaphyseal dysplasia characterized by generalized skeletal dysplasia, deafness, urogenital defects and an increased tendency to form keloid scars that has_material_basis_in heterozygous mutation in MAP3K7 on chromosome 6q15. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_15702 |
| Doid Id | DOID_0111787 |
| Label | Frontometaphyseal Dysplasia 2 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)