Frontometaphyseal Dysplasia 1
Disease ID: disease_node_15703
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| Dbxref | MIM:305620 |
|---|---|
| Subclassof | DOID_0080012, DOID_0111785 |
| Data Source | DOID |
| Synonyms | FMD1 |
| Doid Label | frontometaphyseal dysplasia 1 |
| Doid Description | A frontometaphyseal dysplasia characterized by generalized skeletal dysplasia, deafness, and urogenital defects that has_material_basis_in homozygous or hemizygous mutation in FLNA on chromosome Xq28. |
| Has Material Basis In | GENO_0000149 |
| Disease Node Id | disease_node_15703 |
| Doid Id | DOID_0111786 |
| Label | Frontometaphyseal Dysplasia 1 |
- Outgoing r'ship
SUBCLASS_OFto/from X-Linked Recessive Disease(ID:disease_node_13254) (Disease)