Culler-Jones Syndrome
Disease ID: disease_node_20128
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| Dbxref | GARD:13349, MIM:615849 |
|---|---|
| Subclassof | DOID_0050736, DOID_225 |
| Data Source | DOID |
| Doid Label | Culler-Jones syndrome |
| Doid Description | A syndrome that is characterized by hypopituitarism (mainly growth hormone deficiency), and/or postaxial polydactyly and has_material_basis_in autosomal domit heterozygous mutation in the GLI2 gene on chromosome 2q14. Midline facial defects and developmental delay can also be seen. The condition shows incomplete penetrance and high variable expressivity. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_20128 |
| Doid Id | DOID_0080328 |
| Label | Culler-Jones Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)