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FNS-Harmony
Last uploaded:
November 2, 2023
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| Preferred Name | trichorhinophalangeal syndrome type II | |
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| Definitions |
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. |
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| ID |
http://purl.obolibrary.org/obo/DOID_4998 |
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| definition |
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.
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| label |
trichorhinophalangeal syndrome type II
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| prefixIRI |
DOID:4998
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| prefLabel |
trichorhinophalangeal syndrome type II
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