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loading...| Preferred Name |
Treacher Collins syndrome |
| Synonyms |
Franceschetti syndrome |
| Definitions |
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]. |
| ID |
http://purl.obolibrary.org/obo/DOID_2908 |
| comment |
OMIM mapping confirmed by DO. [SN]. |
| database_cross_reference |
OMIM:PS154500 GARD:9124 NCI:C75018 SNOMEDCT_US_2022_09_01:205416009 ICD10CM:Q75.4 UMLS_CUI:C0242387 MESH:D008342 |
| definition |
A syndrome that is characterized by bilateral and symmetric downslanting palpebral fissures, malar hypoplasia, micrognathia, and external ear abnormalities. |
| has exact match |
MESH:D008342 |
| has exact synonym |
Franceschetti syndrome mandibulofacial dysostosis |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:2908 |
| in_subset | |
| label |
Treacher Collins syndrome |
| notation |
DOID:2908 |
| prefLabel |
Treacher Collins syndrome |
| subClassOf |
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