Teebi Hypertelorism Syndrome 1
Disease ID: disease_node_20103
Connections displayed (default: 10).
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| Dbxref | MIM:145420, ORDO:1519 |
|---|---|
| Subclassof | DOID_0050736, DOID_0081073 |
| Data Source | DOID |
| Synonyms | Opitz GBBB syndrome type II, SPECC1L-related hypertelorism syndrome, Teebi hypertelorism syndrome-1 |
| Doid Label | Teebi hypertelorism syndrome 1 |
| Doid Description | A Teebi hypertelorism syndrome that has_material_basis_in mutation in heterozygous mutation in the SPECC1L gene on chromosome 22q11.2 or heterozygous deletion at chromosome 22q11.2. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_20103 |
| Doid Id | DOID_0080698 |
| Label | Teebi Hypertelorism Syndrome 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Teebi Hypertelorism Syndrome(ID:disease_node_20104) (Disease)