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FNS-Harmony
Last uploaded:
November 2, 2023
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| Preferred Name | osteoglophonic dysplasia | |
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| Definitions |
An osteochondrodysplasia characterized by rhizomelic dwarfism, craniosynostosis, prominent supraorbital ridge, depressed nasal bridge, nonossifying bone lesions, and multiple unerupted teeth that has_material_basis_in heterozygous missense mutation in FGFR1 on chromosome 8p11.23. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0111532 |
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| definition |
An osteochondrodysplasia characterized by rhizomelic dwarfism, craniosynostosis, prominent supraorbital ridge, depressed nasal bridge, nonossifying bone lesions, and multiple unerupted teeth that has_material_basis_in heterozygous missense mutation in FGFR1 on chromosome 8p11.23.
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| label |
osteoglophonic dysplasia
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| prefixIRI |
DOID:0111532
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| prefLabel |
osteoglophonic dysplasia
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