Mandibulofacial Dysostosis
Disease ID: disease_node_4988
Connections displayed (default: 10).
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| Dbxref | GARD:9124, ICD10CM:Q75.4, MESH:D008342, MIM:PS154500, NCI:C75018, SNOMEDCT_US_2023_03_01:205416009, UMLS_CUI:C0242387 |
|---|---|
| Subclassof | DOID_0050736, DOID_225 |
| Data Source | DOID, MESH |
| Synonyms | Franceschetti syndrome, mandibulofacial dysostosis |
| Mesh Id | D008342 |
| Mesh Label | Mandibulofacial Dysostosis |
| Mesh Subclassof | D003394, D003103 |
| Doid Label | Treacher Collins syndrome |
| Doid Description | A syndrome that is characterized by bilateral and symmetric downslanting palpebral fissures, malar hypoplasia, micrognathia, and external ear abnormalities. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_4988 |
| Doid Id | DOID_2908 |
| Label | Mandibulofacial Dysostosis |
- Incoming r'ship
SUBCLASS_OFto/from Treacher Collins Syndrome 2(ID:disease_node_19964) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Treacher Collins Syndrome 4(ID:disease_node_19962) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Treacher Collins Syndrome 3(ID:disease_node_19963) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Treacher Collins Syndrome 1(ID:disease_node_19965) (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)