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Neuroscience Information Framework (NIF) Standard Ontology
Last uploaded:
February 10, 2018
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| Preferred Name | osteoglophonic dysplasia | |
| Synonyms |
osteoglophonic dwarfism OGD Fairbank-Keats syndrome |
|
| 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 the FGFR1 gene on chromosome 8p11.23. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0111532 |
|
| alternative label |
osteoglophonic dwarfism OGD Fairbank-Keats syndrome
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|
| database_cross_reference |
UMLS_CUI:C0432283 OMIM:166250 MESH:C536050 SNOMEDCT_US_2023_03_01:254144002 GARD:4142 ORDO:2645
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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 the FGFR1 gene on chromosome 8p11.23.
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| has exact synonym |
osteoglophonic dwarfism OGD Fairbank-Keats syndrome
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|
| has material basis in | ||
| has_obo_namespace |
disease_ontology
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|
| id |
DOID:0111532
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|
| in_subset | ||
| label |
osteoglophonic dysplasia
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|
| notation |
DOID:0111532
|
|
| note |
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 the FGFR1 gene on chromosome 8p11.23.
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|
| preferred label |
osteoglophonic dysplasia
|
|
| prefLabel |
osteoglophonic dysplasia
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| subClassOf |
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