Mondo Disease Ontology

Last uploaded: November 25, 2024
Preferred Name

osteoglophonic dwarfism
Synonyms

Fairbank-Keats syndrome

OGD

Osteoglosphonic dysplasia

OSTEOGLOPHONIC dysplasia

osteoglophonic dwarfism

Definitions

Osteoglophonic dwarfism (OGD) is characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth.

ID

http://purl.obolibrary.org/obo/MONDO_0008150

curated content resource

https://search.clinicalgenome.org/kb/conditions/MONDO:0008150

database_cross_reference

DOID:0111532

UMLS:C0432283

SCTID:254144002

Orphanet:2645

MESH:C536050

GARD:4142

OMIM:166250

MEDGEN:96592

definition

Osteoglophonic dwarfism (OGD) is characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth.

has_exact_synonym

osteoglophonic dwarfism

has_related_synonym

Fairbank-Keats syndrome

OGD

Osteoglosphonic dysplasia

OSTEOGLOPHONIC dysplasia

IAO_0000233

https://github.com/monarch-initiative/mondo/issues/4948

id

MONDO:0008150

in_subset

http://purl.obolibrary.org/obo/mondo/mondo-simple#otar

http://purl.obolibrary.org/obo/mondo/mondo-simple#clingen

http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare

http://purl.obolibrary.org/obo/mondo/mondo-simple#rare

http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder

http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare

http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_malformation_syndrome

http://purl.obolibrary.org/obo/mondo/mondo-simple#nord_rare

label

osteoglophonic dwarfism

notation

MONDO:0008150

prefLabel

osteoglophonic dwarfism

skos_exactMatch

http://linkedlifedata.com/resource/umls/id/C0432283

http://purl.obolibrary.org/obo/Orphanet_2645

http://identifiers.org/medgen/96592

https://omim.org/entry/166250

http://identifiers.org/mesh/C536050

http://purl.obolibrary.org/obo/DOID_0111532

http://identifiers.org/snomedct/254144002

treeView

http://purl.obolibrary.org/obo/MONDO_0002081

http://purl.obolibrary.org/obo/MONDO_0003847

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019708

subClassOf

http://purl.obolibrary.org/obo/MONDO_0002081

http://purl.obolibrary.org/obo/MONDO_0003847

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