Langer-Giedion Syndrome
Disease ID: disease_node_8482
Connections displayed (default: 10).
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| Dbxref | GARD:7801, MESH:D015826, MIM:150230, NCI:C75118, ORDO:502, SNOMEDCT_US_2023_03_01:41069008, UMLS_CUI:C0023003 |
|---|---|
| Subclassof | DOID_0050736, DOID_225 |
| Data Source | DOID, MESH |
| Synonyms | Langer-Giedion syndrome, Trichorhinophalangeal dysplasia type II, trichorhinophalangeal syndrome type 2 |
| Disease Has Location | UBERON_0001437 |
| Mesh Id | D015826 |
| Mesh Label | Langer-Giedion Syndrome |
| Mesh Subclassof | D010009 |
| Doid Label | trichorhinophalangeal syndrome type II |
| Doid Description | A syndrome that has_material_basis_in mutation of the EXT1 and TRPS1 gene which results_in multiple exostosis along with short stature and cone-shaped ends located_in epiphysis. The disease has_symptom sparse scalp hair, has_symptom thin upper lip, has_symptom rounded nose. OMIM mapping confirmed by DO. [SN]. |
| Has Symptom | SYMP_0000568 |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_8482 |
| Doid Id | DOID_4998 |
| Label | Langer-Giedion Syndrome |
- Outgoing r'ship
HAS_SYMPTOMto/from Short Stature(ID:disease_node_21459) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease)