Human Health Exposure Analysis Resource

Last uploaded: February 2, 2024
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

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

textual 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.

subClassOf

http://purl.obolibrary.org/obo/DOID_2256

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

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