Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	osteoglophonic dysplasia
Synonyms	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.
ID	http://purl.obolibrary.org/obo/DOID_0111532
database_cross_reference	GARD:4142 UMLS_CUI:C0432283 ORDO:2645 OMIM:166250 MESH:C536050 SNOMEDCT_US_2022_09_01:254144002
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.
has exact synonym	Fairbank-Keats syndrome OGD osteoglophonic dwarfism
has material basis in	http://purl.obolibrary.org/obo/GENO_0000147
has_obo_namespace	disease_ontology
id	DOID:0111532
in_subset	http://purl.obolibrary.org/obo/doid#DO_rare_slim
label	osteoglophonic dysplasia
notation	DOID:0111532
prefLabel	osteoglophonic dysplasia
subClassOf	http://purl.obolibrary.org/obo/DOID_0050736 http://purl.obolibrary.org/obo/DOID_2256

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/166250	Online Mendelian Inheritance in Man	LOOM