Preferred Name

osteoglophonic dysplasia

Synonyms

osteoglophonic dwarfism

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

UMLS_CUI:C0432283

OMIM:166250

MESH:C536050

SNOMEDCT_US_2023_03_01:254144002

GARD:4142

ORDO:2645

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

osteoglophonic dwarfism

OGD

Fairbank-Keats syndrome

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_2256

http://purl.obolibrary.org/obo/DOID_0050736

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