loading...| Preferred Name |
Treacher Collins syndrome 1 |
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| Synonyms |
TCS1 |
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| Definitions |
(TCS1) - A form of Treacher Collins syndrome, a disorder of craniofacial development. Treacher Collins syndrome is characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss. |
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| ID |
http://identifiers.org/omim/154500 |
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| altLabel |
TCS1 |
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| definition |
(TCS1) - A form of Treacher Collins syndrome, a disorder of craniofacial development. Treacher Collins syndrome is characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss. |
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| id |
OMIM:154500 |
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| notation |
OMIM:154500 |
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| prefLabel |
Treacher Collins syndrome 1 |
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| subClassOf |